Canonical Allele Identifier: CA352155156

Gene: SCN10A

Linked Data

• dbSNP Id: rs1467032507
• gnomAD v2: 3-38739799-T-G
• gnomAD v4: 3-38698308-T-G
• MyVariant Identifiers: chr3:g.38739799T>G (hg19) ; chr3:g.38698308T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38698308T>G , CM000665.2:g.38698308T>G	GRCh38
NC_000003.11:g.38739799T>G , CM000665.1:g.38739799T>G	GRCh37
NC_000003.10:g.38714803T>G	NCBI36
NG_031891.2:g.100703A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.4912A>C MANE Select	ENSP00000390600.2:p.Ile1638Leu
ENST00000643924.1:c.4909A>C	ENSP00000495595.1:p.Ile1637Leu
ENST00000655275.1:c.4936A>C	ENSP00000499510.1:p.Ile1646Leu
ENST00000449082.2:c.4912A>C	ENSP00000390600.2:p.Ile1638Leu
NM_001293306.2:c.4909A>C	NP_001280235.2:p.Ile1637Leu
NM_001293307.2:c.4618A>C	NP_001280236.2:p.Ile1540Leu
NM_006514.3:c.4912A>C	NP_006505.3:p.Ile1638Leu
XM_005265371.2:c.4921A>C	XP_005265428.1:p.Ile1641Leu
XM_011533993.1:c.4918A>C	XP_011532295.1:p.Ile1640Leu
XM_011533994.1:c.4627A>C	XP_011532296.1:p.Ile1543Leu
XM_005265371.3:c.4921A>C	XP_005265428.1:p.Ile1641Leu
XM_011533993.2:c.4918A>C	XP_011532295.1:p.Ile1640Leu
XM_011533994.2:c.4627A>C	XP_011532296.1:p.Ile1543Leu
NM_006514.4:c.4912A>C MANE Select	NP_006505.4:p.Ile1638Leu