Canonical Allele Identifier: CA388786568

Gene: F7

Linked Data

• MyVariant Identifiers: chr13:g.113773095T>C (hg19) ; chr13:g.113118781T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118781T>C , CM000675.2:g.113118781T>C	GRCh38
NC_000013.10:g.113773095T>C , CM000675.1:g.113773095T>C	GRCh37
NC_000013.9:g.112821096T>C	NCBI36
NG_009258.1:g.983T>C , LRG_548:g.983T>C
NG_009262.1:g.17991T>C , LRG_554:g.17991T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000346342.8:c.1108T>C MANE Select	ENSP00000329546.4:p.Tyr370His
ENST00000346342.7:c.1108T>C	ENSP00000329546.3:p.Tyr370His
ENST00000375581.3:c.1174T>C	ENSP00000364731.3:p.Tyr392His
ENST00000541084.5:c.922T>C	ENSP00000442051.2:p.Tyr308His
NM_000131.4:c.1174T>C , LRG_554t1:c.1174T>C	NP_000122.1:p.Tyr392His
NM_001267554.1:c.922T>C	NP_001254483.1:p.Tyr308His
NM_019616.3:c.1108T>C , LRG_554t2:c.1108T>C	NP_062562.1:p.Tyr370His
NR_051961.1:n.1195T>C
XM_006719963.2:c.967T>C	XP_006720026.1:p.Tyr323His
XM_011537474.1:c.1216T>C	XP_011535776.1:p.Tyr406His
XM_011537475.1:c.1030T>C	XP_011535777.1:p.Tyr344His
XM_011537476.1:c.868T>C	XP_011535778.1:p.Tyr290His
XM_011537477.1:c.1177T>C	XP_011535779.1:p.Tyr393His
XM_006719963.3:c.1012T>C	XP_006720026.2:p.Tyr338His
XM_011537474.2:c.1261T>C	XP_011535776.2:p.Tyr421His
XM_011537475.2:c.1075T>C	XP_011535777.2:p.Tyr359His
XM_011537476.2:c.868T>C	XP_011535778.1:p.Tyr290His
NM_019616.4:c.1108T>C MANE Select	NP_062562.1:p.Tyr370His
NR_051961.2:n.1192T>C
NM_001267554.2:c.922T>C	NP_001254483.1:p.Tyr308His