Canonical Allele Identifier: CA2616227462

Gene: SCN4B

Linked Data

• gnomAD v4: 11-118143814-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118143814G>A , CM000673.2:g.118143814G>A	GRCh38
NC_000011.9:g.118014529G>A , CM000673.1:g.118014529G>A	GRCh37
NC_000011.8:g.117519739G>A	NCBI36
NG_011710.1:g.14102C>T , LRG_330:g.14102C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324727.9:c.463+19C>T MANE Select	ENSP00000322460.4:n.463+19C>T
ENST00000324727.8:c.463+19C>T	ENSP00000322460.4:n.463+19C>T
ENST00000415030.6:n.606+19C>T
ENST00000529878.1:c.62-2478C>T	ENSP00000436343.1:n.62-2478C>T
ENST00000532138.1:n.719+173C>T
NM_001142348.1:c.62-2478C>T	NP_001135820.1:n.62-2478C>T
NM_001142349.1:c.133+19C>T	NP_001135821.1:n.133+19C>T
NM_174934.3:c.463+19C>T , LRG_330t1:c.463+19C>T	NP_777594.1:n.463+19C>T
NR_024527.1:n.488+173C>T
NM_001142348.2:c.62-2478C>T	NP_001135820.1:n.62-2478C>T
NM_001142349.2:c.133+19C>T	NP_001135821.1:n.133+19C>T
NR_024527.2:n.452+173C>T
NM_174934.4:c.463+19C>T MANE Select	NP_777594.1:n.463+19C>T