Canonical Allele Identifier: CA7060128
Community Standard Title: NM_019616.4(F7):c.748G>A (p.Asp250Asn)
Gene: F7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.113118421G>A , CM000675.2:g.113118421G>A GRCh38
NC_000013.10:g.113772735G>A , CM000675.1:g.113772735G>A GRCh37
NC_000013.9:g.112820736G>A NCBI36
NG_009258.1:g.623G>A , LRG_548:g.623G>A
NG_009262.1:g.17631G>A , LRG_554:g.17631G>A

Transcript Alleles

HGVS Amino-acid Change
NM_019616.4:c.748G>A MANE Select NP_062562.1:p.Asp250Asn
ENST00000346342.8:c.748G>A MANE Select ENSP00000329546.4:p.Asp250Asn
NM_000131.4:c.814G>A , LRG_554t1:c.814G>A NP_000122.1:p.Asp272Asn
NM_001267554.1:c.562G>A NP_001254483.1:p.Asp188Asn
NM_001267554.2:c.562G>A NP_001254483.1:p.Asp188Asn
NM_019616.3:c.748G>A , LRG_554t2:c.748G>A NP_062562.1:p.Asp250Asn
NR_051961.1:n.835G>A
NR_051961.2:n.832G>A
ENST00000346342.7:c.748G>A ENSP00000329546.3:p.Asp250Asn
ENST00000375581.3:c.814G>A ENSP00000364731.3:p.Asp272Asn
ENST00000541084.5:c.562G>A ENSP00000442051.2:p.Asp188Asn
XM_006719963.2:c.607G>A XP_006720026.1:p.Asp203Asn
XM_006719963.3:c.652G>A XP_006720026.2:p.Asp218Asn
XM_011537474.1:c.856G>A XP_011535776.1:p.Asp286Asn
XM_011537474.2:c.901G>A XP_011535776.2:p.Asp301Asn
XM_011537475.1:c.670G>A XP_011535777.1:p.Asp224Asn
XM_011537475.2:c.715G>A XP_011535777.2:p.Asp239Asn
XM_011537476.1:c.508G>A XP_011535778.1:p.Asp170Asn
XM_011537476.2:c.508G>A XP_011535778.1:p.Asp170Asn
XM_011537477.1:c.817G>A XP_011535779.1:p.Asp273Asn