Canonical Allele Identifier: CA3793394

Gene: KCNK16

Linked Data

• dbSNP Id: rs1535500
• ExAC: 6:39284050 G / T
• gnomAD v2: 6-39284050-G-T
• gnomAD v3: 6-39316274-G-T
• gnomAD v4: 6-39316274-G-T
• MyVariant Identifiers: chr6:g.39284050G>T (hg19) ; chr6:g.39316274G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.39316274G>T , CM000668.2:g.39316274G>T	GRCh38
NC_000006.11:g.39284050G>T , CM000668.1:g.39284050G>T	GRCh37
NC_000006.10:g.39392028G>T	NCBI36
NG_047208.1:g.3188C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000437525.3:c.830C>A MANE Select	ENSP00000415375.2:p.Ala277Glu
ENST00000373227.8:c.661+508C>A	ENSP00000362324.4:n.661+508C>A
ENST00000373229.9:c.802+28C>A	ENSP00000362326.5:n.802+28C>A
ENST00000425054.6:c.661+508C>A	ENSP00000391498.2:n.661+508C>A
ENST00000437525.2:c.830C>A	ENSP00000415375.2:p.Ala277Glu
ENST00000507712.5:c.466+508C>A	ENSP00000423842.1:n.466+508C>A
NM_001135105.1:c.661+508C>A	NP_001128577.1:n.661+508C>A
NM_001135106.1:c.830C>A	NP_001128578.1:p.Ala277Glu
NM_001135107.1:c.661+508C>A	NP_001128579.1:n.661+508C>A
NM_032115.3:c.802+28C>A	NP_115491.1:n.802+28C>A
XM_011514934.1:c.739+245C>A	XP_011513236.1:n.739+245C>A
XM_011514935.1:c.466+508C>A	XP_011513237.1:n.466+508C>A
XR_926774.1:n.72+2050G>T
NM_001363784.1:c.466+508C>A	NP_001350713.1:n.466+508C>A
XM_017011346.1:c.661+508C>A	XP_016866835.1:n.661+508C>A
XR_926774.2:n.82+2050G>T
NM_001135105.2:c.661+508C>A	NP_001128577.1:n.661+508C>A
NM_001135106.2:c.830C>A MANE Select	NP_001128578.1:p.Ala277Glu
NM_001135107.2:c.661+508C>A	NP_001128579.1:n.661+508C>A
NM_032115.4:c.802+28C>A	NP_115491.1:n.802+28C>A