Canonical Allele Identifier: CA645244611
Gene: F8 HGNC NCBI

Linked Data

dbSNP Id: rs1557281935
gnomAD v2: X-154194197-T-C
gnomAD v3: X-154965922-T-C
gnomAD v4: X-154965922-T-C
MyVariant Identifiers: chrX:g.154194197T>C (hg19) chrX:g.154965922T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154965922T>C , CM000685.2:g.154965922T>C GRCh38
NC_000023.10:g.154194197T>C , CM000685.1:g.154194197T>C GRCh37
NC_000023.9:g.153847391T>C NCBI36
NG_011403.1:g.61802A>G
NG_011403.2:g.61802A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000360256.9:c.1443+48A>G MANE Select ENSP00000353393.4:n.1443+48A>G
ENST00000647125.1:c.*1319+48A>G ENSP00000496062.1:n.*1319+48A>G
ENST00000360256.8:c.1443+48A>G ENSP00000353393.4:n.1443+48A>G
ENST00000483822.2:n.311A>G
NM_000132.3:c.1443+48A>G NP_000123.1:n.1443+48A>G
XM_011531126.1:c.1338+48A>G XP_011529428.1:n.1338+48A>G
NM_000132.4:c.1443+48A>G MANE Select NP_000123.1:n.1443+48A>G
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