Canonical Allele Identifier: CA1305033147

Gene: SCN7A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166423412C= , CM000664.2:g.166423412C=	GRCh38
NC_000002.11:g.167279922C= , CM000664.1:g.167279922C=	GRCh37
NC_000002.10:g.166988168C=	NCBI36
NG_031928.1:g.68560G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000441411.2:c.2874G=	ENSP00000403846.2:p.Met958=
ENST00000643258.1:c.2874G= MANE Select	ENSP00000496114.1:p.Met958=
ENST00000409855.5:c.2874G=	ENSP00000386796.1:p.Met958=
ENST00000424326.5:c.*679G=	ENSP00000396600.1:n.*679G=
ENST00000619410.4:c.2874G=	ENSP00000478562.1:p.Met958=
ENST00000621965.4:c.2874G=	ENSP00000481734.1:p.Met958=
NM_002976.3:c.2874G=	NP_002967.2:p.Met958=
NR_045628.1:n.3098G=
XM_006712680.1:c.2874G=	XP_006712743.1:p.Met958=
XM_006712681.2:c.2874G=	XP_006712744.1:p.Met958=
XM_006712682.2:c.2874G=	XP_006712745.1:p.Met958=
XM_011511615.1:c.2874G=	XP_011509917.1:p.Met958=
XM_006712680.2:c.2874G=	XP_006712743.1:p.Met958=
XM_006712681.3:c.2874G=	XP_006712744.1:p.Met958=
XM_006712682.3:c.2874G=	XP_006712745.1:p.Met958=
XM_011511615.2:c.2874G=	XP_011509917.1:p.Met958=
XM_017004667.1:c.2874G=	XP_016860156.1:p.Met958=
NM_002976.4:c.2874G= MANE Select	NP_002967.2:p.Met958=