Canonical Allele Identifier: CA414897041
Gene: F8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154837663C>A , CM000685.2:g.154837663C>A GRCh38
NC_000023.10:g.154065938C>A , CM000685.1:g.154065938C>A GRCh37
NC_000023.9:g.153719132C>A NCBI36
NG_011403.1:g.190061G>T
NG_033065.1:g.2000G>T
NG_011403.2:g.190061G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.6990G>T MANE Select ENSP00000353393.4:p.Gln2330His
ENST00000644698.1:c.723G>T ENSP00000495706.1:p.Gln241His
ENST00000330287.10:c.585G>T ENSP00000327895.6:p.Gln195His
ENST00000360256.8:c.6990G>T ENSP00000353393.4:p.Gln2330His
NM_000132.3:c.6990G>T NP_000123.1:p.Gln2330His
NM_019863.2:c.585G>T NP_063916.1:p.Gln195His
XM_011531126.1:c.6885G>T XP_011529428.1:p.Gln2295His
NM_000132.4:c.6990G>T MANE Select NP_000123.1:p.Gln2330His
NM_019863.3:c.585G>T NP_063916.1:p.Gln195His