Canonical Allele Identifier: CA352161685

Gene: SCN11A

Linked Data

• MyVariant Identifiers: chr3:g.38888539C>G (hg19) ; chr3:g.38847048C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38847048C>G , CM000665.2:g.38847048C>G	GRCh38
NC_000003.11:g.38888539C>G , CM000665.1:g.38888539C>G	GRCh37
NC_000003.10:g.38863543C>G	NCBI36
NG_033859.1:g.108514G>C
NG_033859.2:g.209939G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302328.9:c.5022G>C MANE Select	ENSP00000307599.3:p.Met1674Ile
ENST00000668754.1:c.5022G>C	ENSP00000499569.1:p.Met1674Ile
ENST00000675223.1:c.5101G>C	ENSP00000502481.1:n.5101G>C
ENST00000675672.1:c.5076G>C	ENSP00000502446.1:n.5076G>C
ENST00000675892.1:c.4842G>C	ENSP00000502318.1:p.Met1614Ile
ENST00000676045.1:c.5066G>C	ENSP00000501685.1:n.5066G>C
ENST00000676176.1:c.4641G>C	ENSP00000501891.1:p.Met1547Ile
ENST00000302328.7:c.5022G>C	ENSP00000307599.3:p.Met1674Ile
ENST00000456224.7:c.4908G>C	ENSP00000416757.3:p.Met1636Ile
NM_001287223.1:c.5022G>C	NP_001274152.1:p.Met1674Ile
NM_014139.2:c.5022G>C	NP_054858.2:p.Met1674Ile
XM_011533320.1:c.5022G>C	XP_011531622.1:p.Met1674Ile
XM_011533321.1:c.4359G>C	XP_011531623.1:p.Met1453Ile
XM_011533322.1:c.3570G>C	XP_011531624.1:p.Met1190Ile
NM_001349253.1:c.5022G>C	NP_001336182.1:p.Met1674Ile
XM_011533321.2:c.4359G>C	XP_011531623.1:p.Met1453Ile
XM_017005647.1:c.5397G>C	XP_016861136.1:p.Met1799Ile
XM_017005648.1:c.4824G>C	XP_016861137.1:p.Met1608Ile
XM_017005650.1:c.5022G>C	XP_016861139.1:p.Met1674Ile
XM_017005651.1:c.4749G>C	XP_016861140.1:p.Met1583Ile
XM_017005653.1:c.3426G>C	XP_016861142.1:p.Met1142Ile
NM_001349253.2:c.5022G>C MANE Select	NP_001336182.1:p.Met1674Ile
NM_014139.3:c.5022G>C	NP_054858.2:p.Met1674Ile