Canonical Allele Identifier: CA388780958
Community Standard Title: NM_019616.4(F7):c.145G>C (p.Gly49Arg)
Gene: F7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.113110770G>C , CM000675.2:g.113110770G>C GRCh38
NC_000013.10:g.113765084G>C , CM000675.1:g.113765084G>C GRCh37
NC_000013.9:g.112813085G>C NCBI36
NG_009262.1:g.9980G>C , LRG_554:g.9980G>C

Transcript Alleles

HGVS Amino-acid Change
NM_019616.4:c.145G>C MANE Select NP_062562.1:p.Gly49Arg
ENST00000346342.8:c.145G>C MANE Select ENSP00000329546.4:p.Gly49Arg
NM_000131.4:c.211G>C , LRG_554t1:c.211G>C NP_000122.1:p.Gly71Arg
NM_001267554.1:c.65-3077G>C NP_001254483.1:n.65-3077G>C
NM_001267554.2:c.65-3077G>C NP_001254483.1:n.65-3077G>C
NM_019616.3:c.145G>C , LRG_554t2:c.145G>C NP_062562.1:p.Gly49Arg
NR_051961.1:n.185G>C
NR_051961.2:n.182G>C
ENST00000346342.7:c.145G>C ENSP00000329546.3:p.Gly49Arg
ENST00000375581.3:c.211G>C ENSP00000364731.3:p.Gly71Arg
ENST00000444337.1:c.131G>C ENSP00000387669.1:p.Gly44Ala
ENST00000473085.1:n.92G>C
ENST00000479674.1:n.431G>C
ENST00000541084.5:c.65-3077G>C ENSP00000442051.2:n.65-3077G>C
XM_006719963.2:c.145G>C XP_006720026.1:p.Gly49Arg
XM_006719963.3:c.190G>C XP_006720026.2:p.Gly64Arg
XM_011537474.1:c.145G>C XP_011535776.1:p.Gly49Arg
XM_011537474.2:c.190G>C XP_011535776.2:p.Gly64Arg
XM_011537475.1:c.65-3077G>C XP_011535777.1:n.65-3077G>C
XM_011537475.2:c.110-3077G>C XP_011535777.2:n.110-3077G>C
XM_011537477.1:c.131G>C XP_011535779.1:p.Gly44Ala