Canonical Allele Identifier: CA414904441

Gene: F8

Linked Data

• MyVariant Identifiers: chrX:g.154088835T>G (hg19) ; chrX:g.154860560T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154860560T>G , CM000685.2:g.154860560T>G	GRCh38
NC_000023.10:g.154088835T>G , CM000685.1:g.154088835T>G	GRCh37
NC_000023.9:g.153742029T>G	NCBI36
NG_011403.1:g.167164A>C
NG_011403.2:g.167164A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360256.9:c.6772A>C MANE Select	ENSP00000353393.4:p.Lys2258Gln
ENST00000644698.1:c.505A>C	ENSP00000495706.1:p.Lys169Gln
ENST00000330287.10:c.367A>C	ENSP00000327895.6:p.Lys123Gln
ENST00000360256.8:c.6772A>C	ENSP00000353393.4:p.Lys2258Gln
NM_000132.3:c.6772A>C	NP_000123.1:p.Lys2258Gln
NM_019863.2:c.367A>C	NP_063916.1:p.Lys123Gln
XM_011531126.1:c.6667A>C	XP_011529428.1:p.Lys2223Gln
NM_000132.4:c.6772A>C MANE Select	NP_000123.1:p.Lys2258Gln
NM_019863.3:c.367A>C	NP_063916.1:p.Lys123Gln