Canonical Allele Identifier: CA388785959

Gene: F7

Linked Data

• gnomAD v4: 13-113118511-G-C
• MyVariant Identifiers: chr13:g.113772825G>C (hg19) ; chr13:g.113118511G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118511G>C , CM000675.2:g.113118511G>C	GRCh38
NC_000013.10:g.113772825G>C , CM000675.1:g.113772825G>C	GRCh37
NC_000013.9:g.112820826G>C	NCBI36
NG_009258.1:g.713G>C , LRG_548:g.713G>C
NG_009262.1:g.17721G>C , LRG_554:g.17721G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.838G>C MANE Select	ENSP00000329546.4:p.Asp280His
ENST00000346342.7:c.838G>C	ENSP00000329546.3:p.Asp280His
ENST00000375581.3:c.904G>C	ENSP00000364731.3:p.Asp302His
ENST00000541084.5:c.652G>C	ENSP00000442051.2:p.Asp218His
NM_000131.4:c.904G>C , LRG_554t1:c.904G>C	NP_000122.1:p.Asp302His
NM_001267554.1:c.652G>C	NP_001254483.1:p.Asp218His
NM_019616.3:c.838G>C , LRG_554t2:c.838G>C	NP_062562.1:p.Asp280His
NR_051961.1:n.925G>C
XM_006719963.2:c.697G>C	XP_006720026.1:p.Asp233His
XM_011537474.1:c.946G>C	XP_011535776.1:p.Asp316His
XM_011537475.1:c.760G>C	XP_011535777.1:p.Asp254His
XM_011537476.1:c.598G>C	XP_011535778.1:p.Asp200His
XM_011537477.1:c.907G>C	XP_011535779.1:p.Asp303His
XM_006719963.3:c.742G>C	XP_006720026.2:p.Asp248His
XM_011537474.2:c.991G>C	XP_011535776.2:p.Asp331His
XM_011537475.2:c.805G>C	XP_011535777.2:p.Asp269His
XM_011537476.2:c.598G>C	XP_011535778.1:p.Asp200His
NM_019616.4:c.838G>C MANE Select	NP_062562.1:p.Asp280His
NR_051961.2:n.922G>C
NM_001267554.2:c.652G>C	NP_001254483.1:p.Asp218His