Canonical Allele Identifier: CA1304438508

Gene: SCN3A

Linked Data

• dbSNP Id: rs1685415850
• gnomAD v4: 2-165097542-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165097542G>C , CM000664.2:g.165097542G>C	GRCh38
NC_000002.11:g.165954052G>C , CM000664.1:g.165954052G>C	GRCh37
NC_000002.10:g.165662298G>C	NCBI36
NG_042289.1:g.111547C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706067.1:c.3916-18C>G	ENSP00000516211.1:n.3916-18C>G
ENST00000283254.12:c.3967-18C>G MANE Select	ENSP00000283254.7:n.3967-18C>G
ENST00000638473.1:c.*1808-18C>G	ENSP00000491552.1:n.*1808-18C>G
ENST00000639244.1:c.3916-18C>G	ENSP00000492251.1:n.3916-18C>G
ENST00000640652.1:c.*701-18C>G	ENSP00000492807.1:n.*701-18C>G
ENST00000658209.1:c.2176-18C>G	ENSP00000499598.1:n.2176-18C>G
ENST00000283254.11:c.3967-18C>G	ENSP00000283254.7:n.3967-18C>G
ENST00000360093.7:c.3967-18C>G	ENSP00000353206.3:n.3967-18C>G
ENST00000409101.7:c.3820-18C>G	ENSP00000386726.3:n.3820-18C>G
ENST00000440431.6:c.3820-18C>G	ENSP00000403348.1:n.3820-18C>G
ENST00000471697.1:n.73C>G
NM_001081676.1:c.3820-18C>G	NP_001075145.1:n.3820-18C>G
NM_001081677.1:c.3820-18C>G	NP_001075146.1:n.3820-18C>G
NM_006922.3:c.3967-18C>G	NP_008853.3:n.3967-18C>G
XM_006712679.1:c.3967-18C>G	XP_006712742.1:n.3967-18C>G
XM_011511610.1:c.3967-18C>G	XP_011509912.1:n.3967-18C>G
XM_011511611.1:c.3967-18C>G	XP_011509913.1:n.3967-18C>G
XM_011511612.1:c.3916-18C>G	XP_011509914.1:n.3916-18C>G
XM_011511613.1:c.2077-18C>G	XP_011509915.1:n.2077-18C>G
XM_011511610.3:c.3967-18C>G	XP_011509912.1:n.3967-18C>G
XM_011511613.3:c.2077-18C>G	XP_011509915.1:n.2077-18C>G
XM_017004660.2:c.3967-18C>G	XP_016860149.1:n.3967-18C>G
XM_017004661.2:c.3916-18C>G	XP_016860150.1:n.3916-18C>G
XM_017004662.2:c.3829-18C>G	XP_016860151.1:n.3829-18C>G
XM_017004663.2:c.2077-18C>G	XP_016860152.1:n.2077-18C>G
NM_006922.4:c.3967-18C>G MANE Select	NP_008853.3:n.3967-18C>G
NM_001081676.2:c.3820-18C>G	NP_001075145.1:n.3820-18C>G
NM_001081677.2:c.3820-18C>G	NP_001075146.1:n.3820-18C>G