Canonical Allele Identifier: CA633276989

Gene: KCNN4

Linked Data

• dbSNP Id: rs1330487163
• gnomAD v2: 19-44280446-C-T
• gnomAD v3: 19-43776294-C-T
• gnomAD v4: 19-43776294-C-T
• MyVariant Identifiers: chr19:g.44280446C>T (hg19) ; chr19:g.43776294C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43776294C>T , CM000681.2:g.43776294C>T	GRCh38
NC_000019.9:g.44280446C>T , CM000681.1:g.44280446C>T	GRCh37
NC_000019.8:g.48972286C>T	NCBI36
NG_052672.1:g.10846G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648319.1:c.255+247G>A MANE Select	ENSP00000496939.1:n.255+247G>A
ENST00000262888.7:c.255+247G>A	ENSP00000262888.3:n.255+247G>A
ENST00000599107.1:n.286+247G>A
ENST00000599720.5:c.160-4191G>A	ENSP00000472513.1:n.160-4191G>A
ENST00000615047.4:c.70+247G>A	ENSP00000485014.1:n.70+247G>A
NM_002250.2:c.255+247G>A	NP_002241.1:n.255+247G>A
XM_005258882.2:c.160-1675G>A	XP_005258939.1:n.160-1675G>A
XM_005258883.2:c.70+247G>A	XP_005258940.1:n.70+247G>A
XM_011526938.1:c.255+247G>A	XP_011525240.1:n.255+247G>A
XR_935823.1:n.1533+247G>A
XR_002958313.1:n.1533+247G>A
NM_002250.3:c.255+247G>A MANE Select	NP_002241.1:n.255+247G>A