Canonical Allele Identifier: CA137630120

Gene: KCNK17

Linked Data

• dbSNP Id: rs951999965
• gnomAD v2: 6-39268741-A-G
• gnomAD v3: 6-39300965-A-G
• gnomAD v4: 6-39300965-A-G
• MyVariant Identifiers: chr6:g.39268741A>G (hg19) ; chr6:g.39300965A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.39300965A>G , CM000668.2:g.39300965A>G	GRCh38
NC_000006.11:g.39268741A>G , CM000668.1:g.39268741A>G	GRCh37
NC_000006.10:g.39376719A>G	NCBI36
NG_047208.1:g.18497T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000373231.9:c.689-1228T>C MANE Select	ENSP00000362328.4:n.689-1228T>C
ENST00000373231.8:c.689-1228T>C	ENSP00000362328.4:n.689-1228T>C
ENST00000453413.2:c.689-442T>C	ENSP00000401271.2:n.689-442T>C
NM_001135111.1:c.689-442T>C	NP_001128583.1:n.689-442T>C
NM_031460.3:c.689-1228T>C	NP_113648.2:n.689-1228T>C
XM_006715239.2:c.689-460T>C	XP_006715302.1:n.689-460T>C
XM_011514973.1:c.398-1228T>C	XP_011513275.1:n.398-1228T>C
NM_031460.4:c.689-1228T>C MANE Select	NP_113648.2:n.689-1228T>C
NM_001135111.2:c.689-442T>C	NP_001128583.1:n.689-442T>C