Canonical Allele Identifier: CA337319404
Gene: F8 HGNC NCBI

Linked Data

dbSNP Id: rs938562671

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154837695A>G , CM000685.2:g.154837695A>G GRCh38
NC_000023.10:g.154065970A>G , CM000685.1:g.154065970A>G GRCh37
NC_000023.9:g.153719164A>G NCBI36
NG_011403.1:g.190029T>C
NG_033065.1:g.1968T>C
NG_011403.2:g.190029T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000360256.9:c.6958T>C MANE Select ENSP00000353393.4:p.Leu2320=
ENST00000644698.1:c.691T>C ENSP00000495706.1:p.Leu231=
ENST00000330287.10:c.553T>C ENSP00000327895.6:p.Leu185=
ENST00000360256.8:c.6958T>C ENSP00000353393.4:p.Leu2320=
NM_000132.3:c.6958T>C NP_000123.1:p.Leu2320=
NM_019863.2:c.553T>C NP_063916.1:p.Leu185=
XM_011531126.1:c.6853T>C XP_011529428.1:p.Leu2285=
NM_000132.4:c.6958T>C MANE Select NP_000123.1:p.Leu2320=
NM_019863.3:c.553T>C NP_063916.1:p.Leu185=