Canonical Allele Identifier: CA7059873

Gene: F7

Linked Data

• dbSNP Id: rs121964935
• ExAC: 13:113765126 G / C
• gnomAD v2: 13-113765126-G-C
• gnomAD v3: 13-113110812-G-C
• gnomAD v4: 13-113110812-G-C
• MyVariant Identifiers: chr13:g.113765126G>C (hg19) ; chr13:g.113110812G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113110812G>C , CM000675.2:g.113110812G>C	GRCh38
NC_000013.10:g.113765126G>C , CM000675.1:g.113765126G>C	GRCh37
NC_000013.9:g.112813127G>C	NCBI36
NG_009262.1:g.10022G>C , LRG_554:g.10022G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000346342.8:c.187G>C MANE Select	ENSP00000329546.4:p.Glu63Gln
ENST00000346342.7:c.187G>C	ENSP00000329546.3:p.Glu63Gln
ENST00000375581.3:c.253G>C	ENSP00000364731.3:p.Glu85Gln
ENST00000444337.1:c.173G>C	ENSP00000387669.1:p.Arg58Pro
ENST00000473085.1:n.134G>C
ENST00000479674.1:n.473G>C
ENST00000541084.5:c.65-3035G>C	ENSP00000442051.2:n.65-3035G>C
NM_000131.4:c.253G>C , LRG_554t1:c.253G>C	NP_000122.1:p.Glu85Gln
NM_001267554.1:c.65-3035G>C	NP_001254483.1:n.65-3035G>C
NM_019616.3:c.187G>C , LRG_554t2:c.187G>C	NP_062562.1:p.Glu63Gln
NR_051961.1:n.227G>C
XM_006719963.2:c.187G>C	XP_006720026.1:p.Glu63Gln
XM_011537474.1:c.187G>C	XP_011535776.1:p.Glu63Gln
XM_011537475.1:c.65-3035G>C	XP_011535777.1:n.65-3035G>C
XM_011537477.1:c.173G>C	XP_011535779.1:p.Arg58Pro
XM_006719963.3:c.232G>C	XP_006720026.2:p.Glu78Gln
XM_011537474.2:c.232G>C	XP_011535776.2:p.Glu78Gln
XM_011537475.2:c.110-3035G>C	XP_011535777.2:n.110-3035G>C
NM_019616.4:c.187G>C MANE Select	NP_062562.1:p.Glu63Gln
NR_051961.2:n.224G>C
NM_001267554.2:c.65-3035G>C	NP_001254483.1:n.65-3035G>C