Canonical Allele Identifier: CA388785913

Gene: F7

Linked Data

• MyVariant Identifiers: chr13:g.113772801T>C (hg19) ; chr13:g.113118487T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118487T>C , CM000675.2:g.113118487T>C	GRCh38
NC_000013.10:g.113772801T>C , CM000675.1:g.113772801T>C	GRCh37
NC_000013.9:g.112820802T>C	NCBI36
NG_009258.1:g.689T>C , LRG_548:g.689T>C
NG_009262.1:g.17697T>C , LRG_554:g.17697T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.814T>C MANE Select	ENSP00000329546.4:p.Tyr272His
ENST00000346342.7:c.814T>C	ENSP00000329546.3:p.Tyr272His
ENST00000375581.3:c.880T>C	ENSP00000364731.3:p.Tyr294His
ENST00000541084.5:c.628T>C	ENSP00000442051.2:p.Tyr210His
NM_000131.4:c.880T>C , LRG_554t1:c.880T>C	NP_000122.1:p.Tyr294His
NM_001267554.1:c.628T>C	NP_001254483.1:p.Tyr210His
NM_019616.3:c.814T>C , LRG_554t2:c.814T>C	NP_062562.1:p.Tyr272His
NR_051961.1:n.901T>C
XM_006719963.2:c.673T>C	XP_006720026.1:p.Tyr225His
XM_011537474.1:c.922T>C	XP_011535776.1:p.Tyr308His
XM_011537475.1:c.736T>C	XP_011535777.1:p.Tyr246His
XM_011537476.1:c.574T>C	XP_011535778.1:p.Tyr192His
XM_011537477.1:c.883T>C	XP_011535779.1:p.Tyr295His
XM_006719963.3:c.718T>C	XP_006720026.2:p.Tyr240His
XM_011537474.2:c.967T>C	XP_011535776.2:p.Tyr323His
XM_011537475.2:c.781T>C	XP_011535777.2:p.Tyr261His
XM_011537476.2:c.574T>C	XP_011535778.1:p.Tyr192His
NM_019616.4:c.814T>C MANE Select	NP_062562.1:p.Tyr272His
NR_051961.2:n.898T>C
NM_001267554.2:c.628T>C	NP_001254483.1:p.Tyr210His