Canonical Allele Identifier: CA352150865

Gene: SCN10A

Linked Data

• MyVariant Identifiers: chr3:g.38753739A>C (hg19) ; chr3:g.38712248A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38712248A>C , CM000665.2:g.38712248A>C	GRCh38
NC_000003.11:g.38753739A>C , CM000665.1:g.38753739A>C	GRCh37
NC_000003.10:g.38728743A>C	NCBI36
NG_031891.2:g.86763T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000449082.3:c.4002T>G MANE Select	ENSP00000390600.2:p.Ile1334Met
ENST00000643924.1:c.3999T>G	ENSP00000495595.1:p.Ile1333Met
ENST00000655275.1:c.4026T>G	ENSP00000499510.1:p.Ile1342Met
ENST00000449082.2:c.4002T>G	ENSP00000390600.2:p.Ile1334Met
NM_001293306.2:c.3999T>G	NP_001280235.2:p.Ile1333Met
NM_001293307.2:c.3708T>G	NP_001280236.2:p.Ile1236Met
NM_006514.3:c.4002T>G	NP_006505.3:p.Ile1334Met
XM_005265371.2:c.4011T>G	XP_005265428.1:p.Ile1337Met
XM_011533993.1:c.4008T>G	XP_011532295.1:p.Ile1336Met
XM_011533994.1:c.3717T>G	XP_011532296.1:p.Ile1239Met
XM_005265371.3:c.4011T>G	XP_005265428.1:p.Ile1337Met
XM_011533993.2:c.4008T>G	XP_011532295.1:p.Ile1336Met
XM_011533994.2:c.3717T>G	XP_011532296.1:p.Ile1239Met
NM_006514.4:c.4002T>G MANE Select	NP_006505.4:p.Ile1334Met