Canonical Allele Identifier: CA414896627

Gene: F8

Linked Data

• gnomAD v4: X-154837615-C-G
• MyVariant Identifiers: chrX:g.154065890C>G (hg19) ; chrX:g.154837615C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154837615C>G , CM000685.2:g.154837615C>G	GRCh38
NC_000023.10:g.154065890C>G , CM000685.1:g.154065890C>G	GRCh37
NC_000023.9:g.153719084C>G	NCBI36
NG_011403.1:g.190109G>C
NG_033065.1:g.2048G>C
NG_011403.2:g.190109G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000360256.9:c.7038G>C MANE Select	ENSP00000353393.4:p.Glu2346Asp
ENST00000644698.1:c.771G>C	ENSP00000495706.1:p.Glu257Asp
ENST00000330287.10:c.633G>C	ENSP00000327895.6:p.Glu211Asp
ENST00000360256.8:c.7038G>C	ENSP00000353393.4:p.Glu2346Asp
NM_000132.3:c.7038G>C	NP_000123.1:p.Glu2346Asp
NM_019863.2:c.633G>C	NP_063916.1:p.Glu211Asp
XM_011531126.1:c.6933G>C	XP_011529428.1:p.Glu2311Asp
NM_000132.4:c.7038G>C MANE Select	NP_000123.1:p.Glu2346Asp
NM_019863.3:c.633G>C	NP_063916.1:p.Glu211Asp