Canonical Allele Identifier: CA352156839

Gene: SCN10A

Linked Data

• gnomAD v4: 3-38725304-A-G
• MyVariant Identifiers: chr3:g.38766795A>G (hg19) ; chr3:g.38725304A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38725304A>G , CM000665.2:g.38725304A>G	GRCh38
NC_000003.11:g.38766795A>G , CM000665.1:g.38766795A>G	GRCh37
NC_000003.10:g.38741799A>G	NCBI36
NG_031891.2:g.73707T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.3098T>C MANE Select	ENSP00000390600.2:p.Leu1033Pro
ENST00000643924.1:c.3095T>C	ENSP00000495595.1:p.Leu1032Pro
ENST00000655275.1:c.3122T>C	ENSP00000499510.1:p.Leu1041Pro
ENST00000449082.2:c.3098T>C	ENSP00000390600.2:p.Leu1033Pro
NM_001293306.2:c.3095T>C	NP_001280235.2:p.Leu1032Pro
NM_001293307.2:c.2804T>C	NP_001280236.2:p.Leu935Pro
NM_006514.3:c.3098T>C	NP_006505.3:p.Leu1033Pro
XM_005265371.2:c.3107T>C	XP_005265428.1:p.Leu1036Pro
XM_011533993.1:c.3104T>C	XP_011532295.1:p.Leu1035Pro
XM_011533994.1:c.2813T>C	XP_011532296.1:p.Leu938Pro
XM_005265371.3:c.3107T>C	XP_005265428.1:p.Leu1036Pro
XM_011533993.2:c.3104T>C	XP_011532295.1:p.Leu1035Pro
XM_011533994.2:c.2813T>C	XP_011532296.1:p.Leu938Pro
NM_006514.4:c.3098T>C MANE Select	NP_006505.4:p.Leu1033Pro