Canonical Allele Identifier: CA381973829

Gene: KCNE3

Linked Data

• dbSNP Id: rs202036216
• gnomAD v2: 11-74168394-A-G
• MyVariant Identifiers: chr11:g.74168394A>G (hg19) ; chr11:g.74457349A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.74457349A>G , CM000673.2:g.74457349A>G	GRCh38
NC_000011.9:g.74168394A>G , CM000673.1:g.74168394A>G	GRCh37
NC_000011.8:g.73846042A>G	NCBI36
NG_011833.1:g.15207T>C , LRG_439:g.15207T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310128.9:c.215T>C MANE Select	ENSP00000310557.4:p.Val72Ala
ENST00000310128.8:c.215T>C	ENSP00000310557.4:p.Val72Ala
ENST00000525550.1:c.215T>C	ENSP00000433633.1:p.Val72Ala
ENST00000532569.5:c.215T>C	ENSP00000431739.1:p.Val72Ala
NM_005472.4:c.215T>C , LRG_439t1:c.215T>C	NP_005463.1:p.Val72Ala
XM_011544713.1:c.347T>C	XP_011543015.1:p.Val116Ala
XM_011544713.2:c.347T>C	XP_011543015.1:p.Val116Ala
XM_017017047.1:c.215T>C	XP_016872536.1:p.Val72Ala
XM_017017048.1:c.215T>C	XP_016872537.1:p.Val72Ala
XM_017017049.1:c.215T>C	XP_016872538.1:p.Val72Ala
XM_017017051.2:c.215T>C	XP_016872540.1:p.Val72Ala
XM_017017052.1:c.215T>C	XP_016872541.1:p.Val72Ala
NM_005472.5:c.215T>C MANE Select	NP_005463.1:p.Val72Ala