Canonical Allele Identifier: CA352155157

Gene: SCN10A

Linked Data

• MyVariant Identifiers: chr3:g.38739799T>C (hg19) ; chr3:g.38698308T>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.4912A>G MANE Select	ENSP00000390600.2:p.Ile1638Val
ENST00000643924.1:c.4909A>G	ENSP00000495595.1:p.Ile1637Val
ENST00000655275.1:c.4936A>G	ENSP00000499510.1:p.Ile1646Val
ENST00000449082.2:c.4912A>G	ENSP00000390600.2:p.Ile1638Val
NM_001293306.2:c.4909A>G	NP_001280235.2:p.Ile1637Val
NM_001293307.2:c.4618A>G	NP_001280236.2:p.Ile1540Val
NM_006514.3:c.4912A>G	NP_006505.3:p.Ile1638Val
XM_005265371.2:c.4921A>G	XP_005265428.1:p.Ile1641Val
XM_011533993.1:c.4918A>G	XP_011532295.1:p.Ile1640Val
XM_011533994.1:c.4627A>G	XP_011532296.1:p.Ile1543Val
XM_005265371.3:c.4921A>G	XP_005265428.1:p.Ile1641Val
XM_011533993.2:c.4918A>G	XP_011532295.1:p.Ile1640Val
XM_011533994.2:c.4627A>G	XP_011532296.1:p.Ile1543Val
NM_006514.4:c.4912A>G MANE Select	NP_006505.4:p.Ile1638Val