Canonical Allele Identifier: CA1138598209
Gene: F8 HGNC NCBI

Linked Data

dbSNP Id: rs2072680451
gnomAD v3: X-154860375-C-G
gnomAD v4: X-154860375-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154860375C>G , CM000685.2:g.154860375C>G GRCh38
NC_000023.10:g.154088650C>G , CM000685.1:g.154088650C>G GRCh37
NC_000023.9:g.153741844C>G NCBI36
NG_011403.1:g.167349G>C
NG_011403.2:g.167349G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.6900+57G>C MANE Select ENSP00000353393.4:n.6900+57G>C
ENST00000644698.1:c.633+57G>C ENSP00000495706.1:n.633+57G>C
ENST00000330287.10:c.495+57G>C ENSP00000327895.6:n.495+57G>C
ENST00000360256.8:c.6900+57G>C ENSP00000353393.4:n.6900+57G>C
NM_000132.3:c.6900+57G>C NP_000123.1:n.6900+57G>C
NM_019863.2:c.495+57G>C NP_063916.1:n.495+57G>C
XM_011531126.1:c.6795+57G>C XP_011529428.1:n.6795+57G>C
NM_000132.4:c.6900+57G>C MANE Select NP_000123.1:n.6900+57G>C
NM_019863.3:c.495+57G>C NP_063916.1:n.495+57G>C
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