Canonical Allele Identifier: CA308794886

Gene: KCNN4

Linked Data

• dbSNP Id: rs561220783
• gnomAD v2: 19-44280053-C-T
• gnomAD v3: 19-43775901-C-T
• gnomAD v4: 19-43775901-C-T
• MyVariant Identifiers: chr19:g.44280053C>T (hg19) ; chr19:g.43775901C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43775901C>T , CM000681.2:g.43775901C>T	GRCh38
NC_000019.9:g.44280053C>T , CM000681.1:g.44280053C>T	GRCh37
NC_000019.8:g.48971893C>T	NCBI36
NG_052672.1:g.11239G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648319.1:c.255+640G>A MANE Select	ENSP00000496939.1:n.255+640G>A
ENST00000262888.7:c.255+640G>A	ENSP00000262888.3:n.255+640G>A
ENST00000599107.1:n.286+640G>A
ENST00000599720.5:c.160-3798G>A	ENSP00000472513.1:n.160-3798G>A
ENST00000615047.4:c.70+640G>A	ENSP00000485014.1:n.70+640G>A
NM_002250.2:c.255+640G>A	NP_002241.1:n.255+640G>A
XM_005258882.2:c.160-1282G>A	XP_005258939.1:n.160-1282G>A
XM_005258883.2:c.70+640G>A	XP_005258940.1:n.70+640G>A
XM_011526938.1:c.255+640G>A	XP_011525240.1:n.255+640G>A
XR_935823.1:n.1533+640G>A
XR_002958313.1:n.1533+640G>A
NM_002250.3:c.255+640G>A MANE Select	NP_002241.1:n.255+640G>A