Canonical Allele Identifier: CA485424028

Gene: F7

Linked Data

• gnomAD v4: 13-113118744-C-T
• MyVariant Identifiers: chr13:g.113773058C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118744C>T , CM000675.2:g.113118744C>T	GRCh38
NC_000013.10:g.113773058C>T , CM000675.1:g.113773058C>T	GRCh37
NC_000013.9:g.112821059C>T	NCBI36
NG_009258.1:g.946C>T , LRG_548:g.946C>T
NG_009262.1:g.17954C>T , LRG_554:g.17954C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.1071C>T MANE Select	ENSP00000329546.4:p.Asp357=
ENST00000346342.7:c.1071C>T	ENSP00000329546.3:p.Asp357=
ENST00000375581.3:c.1137C>T	ENSP00000364731.3:p.Asp379=
ENST00000541084.5:c.885C>T	ENSP00000442051.2:p.Asp295=
NM_000131.4:c.1137C>T , LRG_554t1:c.1137C>T	NP_000122.1:p.Asp379=
NM_001267554.1:c.885C>T	NP_001254483.1:p.Asp295=
NM_019616.3:c.1071C>T , LRG_554t2:c.1071C>T	NP_062562.1:p.Asp357=
NR_051961.1:n.1158C>T
XM_006719963.2:c.930C>T	XP_006720026.1:p.Asp310=
XM_011537474.1:c.1179C>T	XP_011535776.1:p.Asp393=
XM_011537475.1:c.993C>T	XP_011535777.1:p.Asp331=
XM_011537476.1:c.831C>T	XP_011535778.1:p.Asp277=
XM_011537477.1:c.1140C>T	XP_011535779.1:p.Asp380=
XM_006719963.3:c.975C>T	XP_006720026.2:p.Asp325=
XM_011537474.2:c.1224C>T	XP_011535776.2:p.Asp408=
XM_011537475.2:c.1038C>T	XP_011535777.2:p.Asp346=
XM_011537476.2:c.831C>T	XP_011535778.1:p.Asp277=
NM_019616.4:c.1071C>T MANE Select	NP_062562.1:p.Asp357=
NR_051961.2:n.1155C>T
NM_001267554.2:c.885C>T	NP_001254483.1:p.Asp295=