Canonical Allele Identifier: CA382777917

Gene: SCN4B

Linked Data

• MyVariant Identifiers: chr11:g.118014583T>G (hg19) ; chr11:g.118143868T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118143868T>G , CM000673.2:g.118143868T>G	GRCh38
NC_000011.9:g.118014583T>G , CM000673.1:g.118014583T>G	GRCh37
NC_000011.8:g.117519793T>G	NCBI36
NG_011710.1:g.14048A>C , LRG_330:g.14048A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324727.9:c.428A>C MANE Select	ENSP00000322460.4:p.His143Pro
ENST00000324727.8:c.428A>C	ENSP00000322460.4:p.His143Pro
ENST00000415030.6:n.571A>C
ENST00000529878.1:c.62-2532A>C	ENSP00000436343.1:n.62-2532A>C
ENST00000532138.1:n.719+119A>C
NM_001142348.1:c.62-2532A>C	NP_001135820.1:n.62-2532A>C
NM_001142349.1:c.98A>C	NP_001135821.1:p.His33Pro
NM_174934.3:c.428A>C , LRG_330t1:c.428A>C	NP_777594.1:p.His143Pro
NR_024527.1:n.488+119A>C
NM_001142348.2:c.62-2532A>C	NP_001135820.1:n.62-2532A>C
NM_001142349.2:c.98A>C	NP_001135821.1:p.His33Pro
NR_024527.2:n.452+119A>C
NM_174934.4:c.428A>C MANE Select	NP_777594.1:p.His143Pro