Canonical Allele Identifier: CA255028
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 10127
ClinVar RCV Id: RCV000010840
dbSNP Id: rs137852365

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154863103A>G , CM000685.2:g.154863103A>G GRCh38
NC_000023.10:g.154091378A>G , CM000685.1:g.154091378A>G GRCh37
NC_000023.9:g.153744572A>G NCBI36
NG_011403.1:g.164621T>C
NG_011403.2:g.164621T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000360256.9:c.6554T>C MANE Select ENSP00000353393.4:p.Leu2185Ser
ENST00000644698.1:c.287T>C ENSP00000495706.1:p.Leu96Ser
ENST00000330287.10:c.149T>C ENSP00000327895.6:p.Leu50Ser
ENST00000360256.8:c.6554T>C ENSP00000353393.4:p.Leu2185Ser
NM_000132.3:c.6554T>C NP_000123.1:p.Leu2185Ser
NM_019863.2:c.149T>C NP_063916.1:p.Leu50Ser
XM_011531126.1:c.6449T>C XP_011529428.1:p.Leu2150Ser
NM_000132.4:c.6554T>C MANE Select NP_000123.1:p.Leu2185Ser
NM_019863.3:c.149T>C NP_063916.1:p.Leu50Ser