Canonical Allele Identifier: CA199956
Gene: KCNE3 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.74457316C>T
GRCh37 chr11:g.74168361C>T
Revel Score:
ENST00000310128 (MANE Select) 0.584
ENST00000525550 0.584
ENST00000532569 0.584
gnomAD v2:
11:74168361 C / T
gnomAD v3:
11:74457316 C / T
gnomAD v4:
chr11-74457316-C-T
Joint Max Group AF 0.00574076 (NFE)
Genomes Max Group AF 0.00567269 (NFE)
Exomes Max Group AF 0.00571894 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.74457316C>T , CM000673.2:g.74457316C>T GRCh38
NC_000011.9:g.74168361C>T , CM000673.1:g.74168361C>T GRCh37
NC_000011.8:g.73846009C>T NCBI36
NG_011833.1:g.15240G>A , LRG_439:g.15240G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000310128.9:c.248G>A MANE Select ENSP00000310557.4:p.Arg83His
ENST00000310128.8:c.248G>A ENSP00000310557.4:p.Arg83His
ENST00000525550.1:c.248G>A ENSP00000433633.1:p.Arg83His
ENST00000532569.5:c.248G>A ENSP00000431739.1:p.Arg83His
NM_005472.4:c.248G>A , LRG_439t1:c.248G>A NP_005463.1:p.Arg83His
XM_011544713.1:c.380G>A XP_011543015.1:p.Arg127His
XM_011544713.2:c.380G>A XP_011543015.1:p.Arg127His
XM_017017047.1:c.248G>A XP_016872536.1:p.Arg83His
XM_017017048.1:c.248G>A XP_016872537.1:p.Arg83His
XM_017017049.1:c.248G>A XP_016872538.1:p.Arg83His
XM_017017051.2:c.248G>A XP_016872540.1:p.Arg83His
XM_017017052.1:c.248G>A XP_016872541.1:p.Arg83His
NM_005472.5:c.248G>A MANE Select NP_005463.1:p.Arg83His
Search 100 bp 5'
Search 100 bp 3'