Canonical Allele Identifier: CA2320782
Gene: SCN10A HGNC NCBI

Linked Data

ClinVar Variation Id: 1712851
dbSNP Id: rs148046286
gnomAD v2: 3-38793753-G-A
gnomAD v3: 3-38752262-G-A
gnomAD v4: 3-38752262-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38752262G>A , CM000665.2:g.38752262G>A GRCh38
NC_000003.11:g.38793753G>A , CM000665.1:g.38793753G>A GRCh37
NC_000003.10:g.38768757G>A NCBI36
NG_031891.2:g.46749C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000449082.3:c.1712C>T MANE Select ENSP00000390600.2:p.Pro571Leu
ENST00000643924.1:c.1712C>T ENSP00000495595.1:p.Pro571Leu
ENST00000655275.1:c.1739C>T ENSP00000499510.1:p.Pro580Leu
ENST00000449082.2:c.1712C>T ENSP00000390600.2:p.Pro571Leu
NM_001293306.2:c.1712C>T NP_001280235.2:p.Pro571Leu
NM_001293307.2:c.1462-2078C>T NP_001280236.2:n.1462-2078C>T
NM_006514.3:c.1712C>T NP_006505.3:p.Pro571Leu
XM_005265371.2:c.1721C>T XP_005265428.1:p.Pro574Leu
XM_011533993.1:c.1721C>T XP_011532295.1:p.Pro574Leu
XM_011533994.1:c.1471-2078C>T XP_011532296.1:n.1471-2078C>T
XM_005265371.3:c.1721C>T XP_005265428.1:p.Pro574Leu
XM_011533993.2:c.1721C>T XP_011532295.1:p.Pro574Leu
XM_011533994.2:c.1471-2078C>T XP_011532296.1:n.1471-2078C>T
NM_006514.4:c.1712C>T MANE Select NP_006505.4:p.Pro571Leu