Canonical Allele Identifier: CA414907503

Gene: F8

Linked Data

• gnomAD v4: X-154863155-T-C
• MyVariant Identifiers: chrX:g.154091430T>C (hg19) ; chrX:g.154863155T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154863155T>C , CM000685.2:g.154863155T>C	GRCh38
NC_000023.10:g.154091430T>C , CM000685.1:g.154091430T>C	GRCh37
NC_000023.9:g.153744624T>C	NCBI36
NG_011403.1:g.164569A>G
NG_011403.2:g.164569A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360256.9:c.6502A>G MANE Select	ENSP00000353393.4:p.Ile2168Val
ENST00000644698.1:c.235A>G	ENSP00000495706.1:p.Ile79Val
ENST00000330287.10:c.97A>G	ENSP00000327895.6:p.Ile33Val
ENST00000360256.8:c.6502A>G	ENSP00000353393.4:p.Ile2168Val
NM_000132.3:c.6502A>G	NP_000123.1:p.Ile2168Val
NM_019863.2:c.97A>G	NP_063916.1:p.Ile33Val
XM_011531126.1:c.6397A>G	XP_011529428.1:p.Ile2133Val
NM_000132.4:c.6502A>G MANE Select	NP_000123.1:p.Ile2168Val
NM_019863.3:c.97A>G	NP_063916.1:p.Ile33Val