Canonical Allele Identifier: CA256461692

Gene: F7

Linked Data

• dbSNP Id: rs3093267
• gnomAD v2: 13-113772975-G-T
• gnomAD v3: 13-113118661-G-T
• gnomAD v4: 13-113118661-G-T
• MyVariant Identifiers: chr13:g.113772975G>T (hg19) ; chr13:g.113118661G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118661G>T , CM000675.2:g.113118661G>T	GRCh38
NC_000013.10:g.113772975G>T , CM000675.1:g.113772975G>T	GRCh37
NC_000013.9:g.112820976G>T	NCBI36
NG_009258.1:g.863G>T , LRG_548:g.863G>T
NG_009262.1:g.17871G>T , LRG_554:g.17871G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.988G>T MANE Select	ENSP00000329546.4:p.Ala330Ser
ENST00000346342.7:c.988G>T	ENSP00000329546.3:p.Ala330Ser
ENST00000375581.3:c.1054G>T	ENSP00000364731.3:p.Ala352Ser
ENST00000541084.5:c.802G>T	ENSP00000442051.2:p.Ala268Ser
NM_000131.4:c.1054G>T , LRG_554t1:c.1054G>T	NP_000122.1:p.Ala352Ser
NM_001267554.1:c.802G>T	NP_001254483.1:p.Ala268Ser
NM_019616.3:c.988G>T , LRG_554t2:c.988G>T	NP_062562.1:p.Ala330Ser
NR_051961.1:n.1075G>T
XM_006719963.2:c.847G>T	XP_006720026.1:p.Ala283Ser
XM_011537474.1:c.1096G>T	XP_011535776.1:p.Ala366Ser
XM_011537475.1:c.910G>T	XP_011535777.1:p.Ala304Ser
XM_011537476.1:c.748G>T	XP_011535778.1:p.Ala250Ser
XM_011537477.1:c.1057G>T	XP_011535779.1:p.Ala353Ser
XM_006719963.3:c.892G>T	XP_006720026.2:p.Ala298Ser
XM_011537474.2:c.1141G>T	XP_011535776.2:p.Ala381Ser
XM_011537475.2:c.955G>T	XP_011535777.2:p.Ala319Ser
XM_011537476.2:c.748G>T	XP_011535778.1:p.Ala250Ser
NM_019616.4:c.988G>T MANE Select	NP_062562.1:p.Ala330Ser
NR_051961.2:n.1072G>T
NM_001267554.2:c.802G>T	NP_001254483.1:p.Ala268Ser