Canonical Allele Identifier: CA352156600

Gene: SCN10A

Linked Data

• MyVariant Identifiers: chr3:g.38766678T>G (hg19) ; chr3:g.38725187T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38725187T>G , CM000665.2:g.38725187T>G	GRCh38
NC_000003.11:g.38766678T>G , CM000665.1:g.38766678T>G	GRCh37
NC_000003.10:g.38741682T>G	NCBI36
NG_031891.2:g.73824A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.3215A>C MANE Select	ENSP00000390600.2:p.Gln1072Pro
ENST00000643924.1:c.3212A>C	ENSP00000495595.1:p.Gln1071Pro
ENST00000655275.1:c.3239A>C	ENSP00000499510.1:p.Gln1080Pro
ENST00000449082.2:c.3215A>C	ENSP00000390600.2:p.Gln1072Pro
NM_001293306.2:c.3212A>C	NP_001280235.2:p.Gln1071Pro
NM_001293307.2:c.2921A>C	NP_001280236.2:p.Gln974Pro
NM_006514.3:c.3215A>C	NP_006505.3:p.Gln1072Pro
XM_005265371.2:c.3224A>C	XP_005265428.1:p.Gln1075Pro
XM_011533993.1:c.3221A>C	XP_011532295.1:p.Gln1074Pro
XM_011533994.1:c.2930A>C	XP_011532296.1:p.Gln977Pro
XM_005265371.3:c.3224A>C	XP_005265428.1:p.Gln1075Pro
XM_011533993.2:c.3221A>C	XP_011532295.1:p.Gln1074Pro
XM_011533994.2:c.2930A>C	XP_011532296.1:p.Gln977Pro
NM_006514.4:c.3215A>C MANE Select	NP_006505.4:p.Gln1072Pro