Canonical Allele Identifier: CA414897555

Gene: F8

Linked Data

• MyVariant Identifiers: chrX:g.154065993A>G (hg19) ; chrX:g.154837718A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154837718A>G , CM000685.2:g.154837718A>G	GRCh38
NC_000023.10:g.154065993A>G , CM000685.1:g.154065993A>G	GRCh37
NC_000023.9:g.153719187A>G	NCBI36
NG_011403.1:g.190006T>C
NG_033065.1:g.1945T>C
NG_011403.2:g.190006T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360256.9:c.6935T>C MANE Select	ENSP00000353393.4:p.Val2312Ala
ENST00000644698.1:c.668T>C	ENSP00000495706.1:p.Val223Ala
ENST00000330287.10:c.530T>C	ENSP00000327895.6:p.Val177Ala
ENST00000360256.8:c.6935T>C	ENSP00000353393.4:p.Val2312Ala
NM_000132.3:c.6935T>C	NP_000123.1:p.Val2312Ala
NM_019863.2:c.530T>C	NP_063916.1:p.Val177Ala
XM_011531126.1:c.6830T>C	XP_011529428.1:p.Val2277Ala
NM_000132.4:c.6935T>C MANE Select	NP_000123.1:p.Val2312Ala
NM_019863.3:c.530T>C	NP_063916.1:p.Val177Ala