Canonical Allele Identifier: CA352155408

Gene: SCN10A

Linked Data

• MyVariant Identifiers: chr3:g.38739858A>C (hg19) ; chr3:g.38698367A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38698367A>C , CM000665.2:g.38698367A>C	GRCh38
NC_000003.11:g.38739858A>C , CM000665.1:g.38739858A>C	GRCh37
NC_000003.10:g.38714862A>C	NCBI36
NG_031891.2:g.100644T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.4853T>G MANE Select	ENSP00000390600.2:p.Met1618Arg
ENST00000643924.1:c.4850T>G	ENSP00000495595.1:p.Met1617Arg
ENST00000655275.1:c.4877T>G	ENSP00000499510.1:p.Met1626Arg
ENST00000449082.2:c.4853T>G	ENSP00000390600.2:p.Met1618Arg
NM_001293306.2:c.4850T>G	NP_001280235.2:p.Met1617Arg
NM_001293307.2:c.4559T>G	NP_001280236.2:p.Met1520Arg
NM_006514.3:c.4853T>G	NP_006505.3:p.Met1618Arg
XM_005265371.2:c.4862T>G	XP_005265428.1:p.Met1621Arg
XM_011533993.1:c.4859T>G	XP_011532295.1:p.Met1620Arg
XM_011533994.1:c.4568T>G	XP_011532296.1:p.Met1523Arg
XM_005265371.3:c.4862T>G	XP_005265428.1:p.Met1621Arg
XM_011533993.2:c.4859T>G	XP_011532295.1:p.Met1620Arg
XM_011533994.2:c.4568T>G	XP_011532296.1:p.Met1523Arg
NM_006514.4:c.4853T>G MANE Select	NP_006505.4:p.Met1618Arg