Canonical Allele Identifier: CA7060135

Gene: F7

Linked Data

• dbSNP Id: rs550074221
• ExAC: 13:113772750 G / C
• gnomAD v2: 13-113772750-G-C
• gnomAD v3: 13-113118436-G-C
• gnomAD v4: 13-113118436-G-C
• MyVariant Identifiers: chr13:g.113772750G>C (hg19) ; chr13:g.113118436G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118436G>C , CM000675.2:g.113118436G>C	GRCh38
NC_000013.10:g.113772750G>C , CM000675.1:g.113772750G>C	GRCh37
NC_000013.9:g.112820751G>C	NCBI36
NG_009258.1:g.638G>C , LRG_548:g.638G>C
NG_009262.1:g.17646G>C , LRG_554:g.17646G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000346342.8:c.763G>C MANE Select	ENSP00000329546.4:p.Asp255His
ENST00000346342.7:c.763G>C	ENSP00000329546.3:p.Asp255His
ENST00000375581.3:c.829G>C	ENSP00000364731.3:p.Asp277His
ENST00000541084.5:c.577G>C	ENSP00000442051.2:p.Asp193His
NM_000131.4:c.829G>C , LRG_554t1:c.829G>C	NP_000122.1:p.Asp277His
NM_001267554.1:c.577G>C	NP_001254483.1:p.Asp193His
NM_019616.3:c.763G>C , LRG_554t2:c.763G>C	NP_062562.1:p.Asp255His
NR_051961.1:n.850G>C
XM_006719963.2:c.622G>C	XP_006720026.1:p.Asp208His
XM_011537474.1:c.871G>C	XP_011535776.1:p.Asp291His
XM_011537475.1:c.685G>C	XP_011535777.1:p.Asp229His
XM_011537476.1:c.523G>C	XP_011535778.1:p.Asp175His
XM_011537477.1:c.832G>C	XP_011535779.1:p.Asp278His
XM_006719963.3:c.667G>C	XP_006720026.2:p.Asp223His
XM_011537474.2:c.916G>C	XP_011535776.2:p.Asp306His
XM_011537475.2:c.730G>C	XP_011535777.2:p.Asp244His
XM_011537476.2:c.523G>C	XP_011535778.1:p.Asp175His
NM_019616.4:c.763G>C MANE Select	NP_062562.1:p.Asp255His
NR_051961.2:n.847G>C
NM_001267554.2:c.577G>C	NP_001254483.1:p.Asp193His