Canonical Allele Identifier: CA2093662
Community Standard Title: NM_212482.4(FN1):c.7070G>A (p.Arg2357His)
Gene: FN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.215365579C>T , CM000664.2:g.215365579C>T GRCh38
NC_000002.11:g.216230302C>T , CM000664.1:g.216230302C>T GRCh37
NC_000002.10:g.215938547C>T NCBI36
NG_012196.1:g.75490G>A

Transcript Alleles

HGVS Amino-acid Change
NM_212482.4:c.7070G>A MANE Select NP_997647.2:p.Arg2357His
ENST00000354785.11:c.7070G>A MANE Select ENSP00000346839.4:p.Arg2357His
NM_001306129.1:c.6977G>A NP_001293058.1:p.Arg2326His
NM_001306129.2:c.6977G>A NP_001293058.2:p.Arg2326His
NM_001306130.1:c.6440G>A NP_001293059.1:p.Arg2147His
NM_001306130.2:c.6440G>A NP_001293059.2:p.Arg2147His
NM_001306131.1:c.6434G>A NP_001293060.1:p.Arg2145His
NM_001306131.2:c.6434G>A NP_001293060.2:p.Arg2145His
NM_001306132.1:c.6359G>A NP_001293061.1:p.Arg2120His
NM_001306132.2:c.6359G>A NP_001293061.2:p.Arg2120His
NM_001365517.1:c.6800G>A NP_001352446.1:p.Arg2267His
NM_001365517.2:c.6800G>A NP_001352446.1:p.Arg2267His
NM_001365518.1:c.6797G>A NP_001352447.1:p.Arg2266His
NM_001365518.2:c.6797G>A NP_001352447.1:p.Arg2266His
NM_001365519.1:c.6725G>A NP_001352448.1:p.Arg2242His
NM_001365519.2:c.6725G>A NP_001352448.1:p.Arg2242His
NM_001365520.1:c.6722G>A NP_001352449.1:p.Arg2241His
NM_001365520.2:c.6722G>A NP_001352449.1:p.Arg2241His
NM_001365521.1:c.6707G>A NP_001352450.1:p.Arg2236His
NM_001365521.2:c.6707G>A NP_001352450.1:p.Arg2236His
NM_001365522.1:c.6632G>A NP_001352451.1:p.Arg2211His
NM_001365522.2:c.6632G>A NP_001352451.1:p.Arg2211His
NM_001365523.1:c.6452G>A NP_001352452.1:p.Arg2151His
NM_001365523.2:c.6452G>A NP_001352452.1:p.Arg2151His
NM_001365524.1:c.6437G>A NP_001352453.1:p.Arg2146His
NM_001365524.2:c.6437G>A NP_001352453.1:p.Arg2146His
NM_002026.2:c.6704G>A NP_002017.1:p.Arg2235His
NM_002026.3:c.6704G>A NP_002017.1:p.Arg2235His
NM_002026.4:c.6704G>A NP_002017.2:p.Arg2235His
NM_212474.1:c.6167G>A NP_997639.1:p.Arg2056His
NM_212474.2:c.6167G>A NP_997639.1:p.Arg2056His
NM_212474.3:c.6167G>A NP_997639.2:p.Arg2056His
NM_212476.1:c.6527G>A NP_997641.1:p.Arg2176His
NM_212476.2:c.6527G>A NP_997641.1:p.Arg2176His
NM_212476.3:c.6527G>A NP_997641.2:p.Arg2176His
NM_212478.1:c.6629G>A NP_997643.1:p.Arg2210His
NM_212478.2:c.6629G>A NP_997643.1:p.Arg2210His
NM_212478.3:c.6629G>A NP_997643.2:p.Arg2210His
NM_212482.1:c.7070G>A NP_997647.1:p.Arg2357His
NM_212482.2:c.7070G>A NP_997647.1:p.Arg2357His
NM_212482.3:c.7070G>A NP_997647.1:p.Arg2357His
ENST00000323926.10:c.6977G>A ENSP00000323534.6:p.Arg2326His
ENST00000336916.8:c.6704G>A ENSP00000338200.4:p.Arg2235His
ENST00000354785.8:c.7070G>A ENSP00000346839.4:p.Arg2357His
ENST00000356005.8:c.6527G>A ENSP00000348285.4:p.Arg2176His
ENST00000357867.8:c.6167G>A ENSP00000350534.4:p.Arg2056His
ENST00000359671.5:c.6797G>A ENSP00000352696.1:p.Arg2266His
ENST00000421182.5:c.6359G>A ENSP00000394423.1:p.Arg2120His
ENST00000432072.6:c.6440G>A ENSP00000399538.2:p.Arg2147His
ENST00000443816.5:c.6434G>A ENSP00000415018.1:p.Arg2145His
ENST00000446046.5:c.6629G>A ENSP00000410422.1:p.Arg2210His
ENST00000456923.5:c.2948G>A ENSP00000416139.1:p.Arg983His
ENST00000473614.1:n.175G>A
ENST00000492816.6:n.8114G>A
ENST00000494446.1:n.98G>A
XM_005246397.1:c.7070G>A XP_005246454.1:p.Arg2357His
XM_005246398.1:c.6995G>A XP_005246455.1:p.Arg2332His
XM_005246399.1:c.6977G>A XP_005246456.1:p.Arg2326His
XM_005246401.1:c.6902G>A XP_005246458.1:p.Arg2301His
XM_005246402.1:c.6902G>A XP_005246459.1:p.Arg2301His
XM_005246403.1:c.6800G>A XP_005246460.1:p.Arg2267His
XM_005246404.1:c.6797G>A XP_005246461.1:p.Arg2266His
XM_005246405.1:c.6800G>A XP_005246462.1:p.Arg2267His
XM_005246406.1:c.6797G>A XP_005246463.1:p.Arg2266His
XM_005246407.1:c.6710G>A XP_005246464.1:p.Arg2237His
XM_005246408.1:c.6707G>A XP_005246465.1:p.Arg2236His
XM_005246409.1:c.6722G>A XP_005246466.1:p.Arg2241His
XM_005246410.1:c.6632G>A XP_005246467.1:p.Arg2211His
XM_005246411.1:c.6440G>A XP_005246468.1:p.Arg2147His
XM_005246412.1:c.6452G>A XP_005246469.1:p.Arg2151His
XM_005246414.1:c.6437G>A XP_005246471.1:p.Arg2146His
XM_005246416.1:c.6359G>A XP_005246473.1:p.Arg2120His
XM_017003692.1:c.6710G>A XP_016859181.1:p.Arg2237His
XM_017003695.1:c.6527G>A XP_016859184.1:p.Arg2176His
XM_024452769.1:c.6995G>A XP_024308537.1:p.Arg2332His
XM_024452770.1:c.6725G>A XP_024308538.1:p.Arg2242His