Canonical Allele Identifier: CA414906960

Gene: F8

Linked Data

• dbSNP Id: rs1336216314
• gnomAD v3: X-154863100-A-G
• gnomAD v4: X-154863100-A-G
• MyVariant Identifiers: chrX:g.154091375A>G (hg19) ; chrX:g.154863100A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154863100A>G , CM000685.2:g.154863100A>G	GRCh38
NC_000023.10:g.154091375A>G , CM000685.1:g.154091375A>G	GRCh37
NC_000023.9:g.153744569A>G	NCBI36
NG_011403.1:g.164624T>C
NG_011403.2:g.164624T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000360256.9:c.6557T>C MANE Select	ENSP00000353393.4:p.Met2186Thr
ENST00000644698.1:c.290T>C	ENSP00000495706.1:p.Met97Thr
ENST00000330287.10:c.152T>C	ENSP00000327895.6:p.Met51Thr
ENST00000360256.8:c.6557T>C	ENSP00000353393.4:p.Met2186Thr
NM_000132.3:c.6557T>C	NP_000123.1:p.Met2186Thr
NM_019863.2:c.152T>C	NP_063916.1:p.Met51Thr
XM_011531126.1:c.6452T>C	XP_011529428.1:p.Met2151Thr
NM_000132.4:c.6557T>C MANE Select	NP_000123.1:p.Met2186Thr
NM_019863.3:c.152T>C	NP_063916.1:p.Met51Thr