Canonical Allele Identifier: CA996174950

Gene: KCNN4

Linked Data

• gnomAD v3: 19-43776165-C-A
• gnomAD v4: 19-43776165-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43776165C>A , CM000681.2:g.43776165C>A	GRCh38
NC_000019.9:g.44280317C>A , CM000681.1:g.44280317C>A	GRCh37
NC_000019.8:g.48972157C>A	NCBI36
NG_052672.1:g.10975G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648319.1:c.255+376G>T MANE Select	ENSP00000496939.1:n.255+376G>T
ENST00000262888.7:c.255+376G>T	ENSP00000262888.3:n.255+376G>T
ENST00000599107.1:n.286+376G>T
ENST00000599720.5:c.160-4062G>T	ENSP00000472513.1:n.160-4062G>T
ENST00000615047.4:c.70+376G>T	ENSP00000485014.1:n.70+376G>T
NM_002250.2:c.255+376G>T	NP_002241.1:n.255+376G>T
XM_005258882.2:c.160-1546G>T	XP_005258939.1:n.160-1546G>T
XM_005258883.2:c.70+376G>T	XP_005258940.1:n.70+376G>T
XM_011526938.1:c.255+376G>T	XP_011525240.1:n.255+376G>T
XR_935823.1:n.1533+376G>T
XR_002958313.1:n.1533+376G>T
NM_002250.3:c.255+376G>T MANE Select	NP_002241.1:n.255+376G>T