Canonical Allele Identifier: CA414897413

Gene: F8

Linked Data

• gnomAD v4: X-154837703-T-G
• MyVariant Identifiers: chrX:g.154065978T>G (hg19) ; chrX:g.154837703T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154837703T>G , CM000685.2:g.154837703T>G	GRCh38
NC_000023.10:g.154065978T>G , CM000685.1:g.154065978T>G	GRCh37
NC_000023.9:g.153719172T>G	NCBI36
NG_011403.1:g.190021A>C
NG_033065.1:g.1960A>C
NG_011403.2:g.190021A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000360256.9:c.6950A>C MANE Select	ENSP00000353393.4:p.Asp2317Ala
ENST00000644698.1:c.683A>C	ENSP00000495706.1:p.Asp228Ala
ENST00000330287.10:c.545A>C	ENSP00000327895.6:p.Asp182Ala
ENST00000360256.8:c.6950A>C	ENSP00000353393.4:p.Asp2317Ala
NM_000132.3:c.6950A>C	NP_000123.1:p.Asp2317Ala
NM_019863.2:c.545A>C	NP_063916.1:p.Asp182Ala
XM_011531126.1:c.6845A>C	XP_011529428.1:p.Asp2282Ala
NM_000132.4:c.6950A>C MANE Select	NP_000123.1:p.Asp2317Ala
NM_019863.3:c.545A>C	NP_063916.1:p.Asp182Ala