Canonical Allele Identifier: CA1138601332
Gene: F8 HGNC NCBI

Linked Data

dbSNP Id: rs1279798631
gnomAD v3: X-154954082-C-G
gnomAD v4: X-154954082-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154954082C>G , CM000685.2:g.154954082C>G GRCh38
NC_000023.10:g.154182357C>G , CM000685.1:g.154182357C>G GRCh37
NC_000023.9:g.153835551C>G NCBI36
NG_011403.1:g.73642G>C
NG_011403.2:g.73642G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000360256.9:c.1753-40G>C MANE Select ENSP00000353393.4:n.1753-40G>C
ENST00000647125.1:c.*1629-40G>C ENSP00000496062.1:n.*1629-40G>C
ENST00000360256.8:c.1753-40G>C ENSP00000353393.4:n.1753-40G>C
NM_000132.3:c.1753-40G>C NP_000123.1:n.1753-40G>C
XM_011531126.1:c.1648-40G>C XP_011529428.1:n.1648-40G>C
NM_000132.4:c.1753-40G>C MANE Select NP_000123.1:n.1753-40G>C
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