Canonical Allele Identifier: CA352156690

Gene: SCN10A

Linked Data

• gnomAD v4: 3-38725232-A-G
• COSMIC: COSM6361669
• MyVariant Identifiers: chr3:g.38766723A>G (hg19) ; chr3:g.38725232A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38725232A>G , CM000665.2:g.38725232A>G	GRCh38
NC_000003.11:g.38766723A>G , CM000665.1:g.38766723A>G	GRCh37
NC_000003.10:g.38741727A>G	NCBI36
NG_031891.2:g.73779T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.3170T>C MANE Select	ENSP00000390600.2:p.Leu1057Pro
ENST00000643924.1:c.3167T>C	ENSP00000495595.1:p.Leu1056Pro
ENST00000655275.1:c.3194T>C	ENSP00000499510.1:p.Leu1065Pro
ENST00000449082.2:c.3170T>C	ENSP00000390600.2:p.Leu1057Pro
NM_001293306.2:c.3167T>C	NP_001280235.2:p.Leu1056Pro
NM_001293307.2:c.2876T>C	NP_001280236.2:p.Leu959Pro
NM_006514.3:c.3170T>C	NP_006505.3:p.Leu1057Pro
XM_005265371.2:c.3179T>C	XP_005265428.1:p.Leu1060Pro
XM_011533993.1:c.3176T>C	XP_011532295.1:p.Leu1059Pro
XM_011533994.1:c.2885T>C	XP_011532296.1:p.Leu962Pro
XM_005265371.3:c.3179T>C	XP_005265428.1:p.Leu1060Pro
XM_011533993.2:c.3176T>C	XP_011532295.1:p.Leu1059Pro
XM_011533994.2:c.2885T>C	XP_011532296.1:p.Leu962Pro
NM_006514.4:c.3170T>C MANE Select	NP_006505.4:p.Leu1057Pro