Canonical Allele Identifier: CA388786211

Gene: F7

Linked Data

• gnomAD v4: 13-113118639-G-C
• MyVariant Identifiers: chr13:g.113772953G>C (hg19) ; chr13:g.113118639G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118639G>C , CM000675.2:g.113118639G>C	GRCh38
NC_000013.10:g.113772953G>C , CM000675.1:g.113772953G>C	GRCh37
NC_000013.9:g.112820954G>C	NCBI36
NG_009258.1:g.841G>C , LRG_548:g.841G>C
NG_009262.1:g.17849G>C , LRG_554:g.17849G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.966G>C MANE Select	ENSP00000329546.4:p.Trp322Cys
ENST00000346342.7:c.966G>C	ENSP00000329546.3:p.Trp322Cys
ENST00000375581.3:c.1032G>C	ENSP00000364731.3:p.Trp344Cys
ENST00000541084.5:c.780G>C	ENSP00000442051.2:p.Trp260Cys
NM_000131.4:c.1032G>C , LRG_554t1:c.1032G>C	NP_000122.1:p.Trp344Cys
NM_001267554.1:c.780G>C	NP_001254483.1:p.Trp260Cys
NM_019616.3:c.966G>C , LRG_554t2:c.966G>C	NP_062562.1:p.Trp322Cys
NR_051961.1:n.1053G>C
XM_006719963.2:c.825G>C	XP_006720026.1:p.Trp275Cys
XM_011537474.1:c.1074G>C	XP_011535776.1:p.Trp358Cys
XM_011537475.1:c.888G>C	XP_011535777.1:p.Trp296Cys
XM_011537476.1:c.726G>C	XP_011535778.1:p.Trp242Cys
XM_011537477.1:c.1035G>C	XP_011535779.1:p.Trp345Cys
XM_006719963.3:c.870G>C	XP_006720026.2:p.Trp290Cys
XM_011537474.2:c.1119G>C	XP_011535776.2:p.Trp373Cys
XM_011537475.2:c.933G>C	XP_011535777.2:p.Trp311Cys
XM_011537476.2:c.726G>C	XP_011535778.1:p.Trp242Cys
NM_019616.4:c.966G>C MANE Select	NP_062562.1:p.Trp322Cys
NR_051961.2:n.1050G>C
NM_001267554.2:c.780G>C	NP_001254483.1:p.Trp260Cys