Canonical Allele Identifier: CA414920739

Gene: F8

Linked Data

• dbSNP Id: rs1173458128
• gnomAD v2: X-154250823-T-G
• gnomAD v3: X-155022548-T-G
• gnomAD v4: X-155022548-T-G
• MyVariant Identifiers: chrX:g.154250823T>G (hg19) ; chrX:g.155022548T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.155022548T>G , CM000685.2:g.155022548T>G	GRCh38
NC_000023.10:g.154250823T>G , CM000685.1:g.154250823T>G	GRCh37
NC_000023.9:g.153904017T>G	NCBI36
NG_011403.1:g.5176A>C
NG_011403.2:g.5176A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360256.9:c.5A>C MANE Select	ENSP00000353393.4:p.Gln2Pro
ENST00000647125.1:c.5A>C	ENSP00000496062.1:p.Gln2Pro
ENST00000360256.8:c.5A>C	ENSP00000353393.4:p.Gln2Pro
ENST00000423959.5:c.38+4232A>C	ENSP00000409446.1:n.38+4232A>C
ENST00000453950.1:c.39-52A>C	ENSP00000389153.1:n.39-52A>C
NM_000132.3:c.5A>C	NP_000123.1:p.Gln2Pro
XM_011531126.1:c.38+4232A>C	XP_011529428.1:n.38+4232A>C
NM_000132.4:c.5A>C MANE Select	NP_000123.1:p.Gln2Pro