Canonical Allele Identifier: CA1138602392

Gene: F8

Linked Data

• dbSNP Id: rs2073420581
• gnomAD v3: X-154965924-C-A
• gnomAD v4: X-154965924-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154965924C>A , CM000685.2:g.154965924C>A	GRCh38
NC_000023.10:g.154194199C>A , CM000685.1:g.154194199C>A	GRCh37
NC_000023.9:g.153847393C>A	NCBI36
NG_011403.1:g.61800G>T
NG_011403.2:g.61800G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360256.9:c.1443+46G>T MANE Select	ENSP00000353393.4:n.1443+46G>T
ENST00000647125.1:c.*1319+46G>T	ENSP00000496062.1:n.*1319+46G>T
ENST00000360256.8:c.1443+46G>T	ENSP00000353393.4:n.1443+46G>T
ENST00000483822.2:n.309G>T
NM_000132.3:c.1443+46G>T	NP_000123.1:n.1443+46G>T
XM_011531126.1:c.1338+46G>T	XP_011529428.1:n.1338+46G>T
NM_000132.4:c.1443+46G>T MANE Select	NP_000123.1:n.1443+46G>T