Canonical Allele Identifier: CA542615845

Gene: SCN10A

Linked Data

• dbSNP Id: rs1027839598
• gnomAD v2: 3-38794110-T-G
• gnomAD v3: 3-38752619-T-G
• gnomAD v4: 3-38752619-T-G
• MyVariant Identifiers: chr3:g.38794110T>G (hg19) ; chr3:g.38752619T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38752619T>G , CM000665.2:g.38752619T>G	GRCh38
NC_000003.11:g.38794110T>G , CM000665.1:g.38794110T>G	GRCh37
NC_000003.10:g.38769114T>G	NCBI36
NG_031891.2:g.46392A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.1462-107A>C MANE Select	ENSP00000390600.2:n.1462-107A>C
ENST00000643924.1:c.1462-107A>C	ENSP00000495595.1:n.1462-107A>C
ENST00000655275.1:c.1489-107A>C	ENSP00000499510.1:n.1489-107A>C
ENST00000449082.2:c.1462-107A>C	ENSP00000390600.2:n.1462-107A>C
NM_001293306.2:c.1462-107A>C	NP_001280235.2:n.1462-107A>C
NM_001293307.2:c.1462-2435A>C	NP_001280236.2:n.1462-2435A>C
NM_006514.3:c.1462-107A>C	NP_006505.3:n.1462-107A>C
XM_005265371.2:c.1471-107A>C	XP_005265428.1:n.1471-107A>C
XM_011533993.1:c.1471-107A>C	XP_011532295.1:n.1471-107A>C
XM_011533994.1:c.1471-2435A>C	XP_011532296.1:n.1471-2435A>C
XM_005265371.3:c.1471-107A>C	XP_005265428.1:n.1471-107A>C
XM_011533993.2:c.1471-107A>C	XP_011532295.1:n.1471-107A>C
XM_011533994.2:c.1471-2435A>C	XP_011532296.1:n.1471-2435A>C
NM_006514.4:c.1462-107A>C MANE Select	NP_006505.4:n.1462-107A>C