Canonical Allele Identifier: CA1358770626
Gene: SCN11A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.39013826C= , CM000665.2:g.39013826C= GRCh38
NC_000003.11:g.39055317C= , CM000665.1:g.39055317C= GRCh37
NC_000003.10:g.39030321C= NCBI36
NG_033859.2:g.43161G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000302328.9:c.-280+18554G= MANE Select ENSP00000307599.3:n.-280+18554G=
ENST00000665106.1:n.205+18554G=
ENST00000668754.1:c.-780+18554G= ENSP00000499569.1:n.-780+18554G=
ENST00000675269.1:n.248+18554G=
ENST00000676333.1:n.162+18554G=
XM_011534335.1:c.172+18554G= XP_011532637.1:n.172+18554G=
XM_011534336.1:c.172+18554G= XP_011532638.1:n.172+18554G=
XR_940736.1:n.202+18554G=
XR_940737.1:n.202+18554G=
NM_001349253.1:c.-280+18554G= NP_001336182.1:n.-280+18554G=
NM_001349253.2:c.-280+18554G= MANE Select NP_001336182.1:n.-280+18554G=
NR_164473.1:n.208+18554G=