Canonical Allele Identifier: CA414897249
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 618642
ClinVar RCV Id: RCV000757257
dbSNP Id: rs137852473

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154837686G>C , CM000685.2:g.154837686G>C GRCh38
NC_000023.10:g.154065961G>C , CM000685.1:g.154065961G>C GRCh37
NC_000023.9:g.153719155G>C NCBI36
NG_011403.1:g.190038C>G
NG_033065.1:g.1977C>G
NG_011403.2:g.190038C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000360256.9:c.6967C>G MANE Select ENSP00000353393.4:p.Arg2323Gly
ENST00000644698.1:c.700C>G ENSP00000495706.1:p.Arg234Gly
ENST00000330287.10:c.562C>G ENSP00000327895.6:p.Arg188Gly
ENST00000360256.8:c.6967C>G ENSP00000353393.4:p.Arg2323Gly
NM_000132.3:c.6967C>G NP_000123.1:p.Arg2323Gly
NM_019863.2:c.562C>G NP_063916.1:p.Arg188Gly
XM_011531126.1:c.6862C>G XP_011529428.1:p.Arg2288Gly
NM_000132.4:c.6967C>G MANE Select NP_000123.1:p.Arg2323Gly
NM_019863.3:c.562C>G NP_063916.1:p.Arg188Gly