Canonical Allele Identifier: CA382777520

Gene: SCN4B

Linked Data

• MyVariant Identifiers: chr11:g.118011976A>G (hg19) ; chr11:g.118141261A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118141261A>G , CM000673.2:g.118141261A>G	GRCh38
NC_000011.9:g.118011976A>G , CM000673.1:g.118011976A>G	GRCh37
NC_000011.8:g.117517186A>G	NCBI36
NG_011710.1:g.16655T>C , LRG_330:g.16655T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324727.9:c.539T>C MANE Select	ENSP00000322460.4:p.Ile180Thr
ENST00000324727.8:c.539T>C	ENSP00000322460.4:p.Ile180Thr
ENST00000415030.6:n.682T>C
ENST00000423160.2:n.173T>C
ENST00000529878.1:c.137T>C	ENSP00000436343.1:p.Ile46Thr
ENST00000531550.1:n.604T>C
ENST00000532138.1:n.795T>C
NM_001142348.1:c.137T>C	NP_001135820.1:p.Ile46Thr
NM_001142349.1:c.209T>C	NP_001135821.1:p.Ile70Thr
NM_174934.3:c.539T>C , LRG_330t1:c.539T>C	NP_777594.1:p.Ile180Thr
NR_024527.1:n.564T>C
NM_001142348.2:c.137T>C	NP_001135820.1:p.Ile46Thr
NM_001142349.2:c.209T>C	NP_001135821.1:p.Ile70Thr
NR_024527.2:n.528T>C
NM_174934.4:c.539T>C MANE Select	NP_777594.1:p.Ile180Thr