Canonical Allele Identifier: CA414897548
Gene: F8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154837716C>G , CM000685.2:g.154837716C>G GRCh38
NC_000023.10:g.154065991C>G , CM000685.1:g.154065991C>G GRCh37
NC_000023.9:g.153719185C>G NCBI36
NG_011403.1:g.190008G>C
NG_033065.1:g.1947G>C
NG_011403.2:g.190008G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.6937G>C MANE Select ENSP00000353393.4:p.Val2313Leu
ENST00000644698.1:c.670G>C ENSP00000495706.1:p.Val224Leu
ENST00000330287.10:c.532G>C ENSP00000327895.6:p.Val178Leu
ENST00000360256.8:c.6937G>C ENSP00000353393.4:p.Val2313Leu
NM_000132.3:c.6937G>C NP_000123.1:p.Val2313Leu
NM_019863.2:c.532G>C NP_063916.1:p.Val178Leu
XM_011531126.1:c.6832G>C XP_011529428.1:p.Val2278Leu
NM_000132.4:c.6937G>C MANE Select NP_000123.1:p.Val2313Leu
NM_019863.3:c.532G>C NP_063916.1:p.Val178Leu