Canonical Allele Identifier: CA414920054

Gene: F8

Linked Data

• COSMIC: COSM3559955 ; COSM3559956
• MyVariant Identifiers: chrX:g.154225334T>G (hg19) ; chrX:g.154997059T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154997059T>G , CM000685.2:g.154997059T>G	GRCh38
NC_000023.10:g.154225334T>G , CM000685.1:g.154225334T>G	GRCh37
NC_000023.9:g.153878528T>G	NCBI36
NG_011403.1:g.30665A>C
NG_011403.2:g.30665A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360256.9:c.302A>C MANE Select	ENSP00000353393.4:p.Asp101Ala
ENST00000647125.1:c.*88A>C	ENSP00000496062.1:n.*88A>C
ENST00000360256.8:c.302A>C	ENSP00000353393.4:p.Asp101Ala
ENST00000423959.5:c.197A>C	ENSP00000409446.1:p.Asp66Ala
ENST00000453950.1:c.284A>C	ENSP00000389153.1:p.Asp95Ala
NM_000132.3:c.302A>C	NP_000123.1:p.Asp101Ala
XM_011531126.1:c.197A>C	XP_011529428.1:p.Asp66Ala
NM_000132.4:c.302A>C MANE Select	NP_000123.1:p.Asp101Ala