Canonical Allele Identifier: CA2585562035

Gene: KCNN4

Linked Data

• gnomAD v4: 19-43769712-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43769712A>C , CM000681.2:g.43769712A>C	GRCh38
NC_000019.9:g.44273864A>C , CM000681.1:g.44273864A>C	GRCh37
NC_000019.8:g.48965704A>C	NCBI36
NG_052672.1:g.17428T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000601549.2:n.552+7T>G
ENST00000648053.1:n.362+7T>G
ENST00000648319.1:c.930+7T>G MANE Select	ENSP00000496939.1:n.930+7T>G
ENST00000262888.7:c.930+7T>G	ENSP00000262888.3:n.930+7T>G
ENST00000598836.1:c.109+7T>G
ENST00000599720.5:c.*200+7T>G	ENSP00000472513.1:n.*200+7T>G
ENST00000600408.1:c.219+7T>G	ENSP00000472510.1:n.219+7T>G
ENST00000601549.1:n.239+7T>G
ENST00000615047.4:c.534+7T>G	ENSP00000485014.1:n.534+7T>G
NM_002250.2:c.930+7T>G	NP_002241.1:n.930+7T>G
XM_005258882.2:c.834+7T>G	XP_005258939.1:n.834+7T>G
XM_005258883.2:c.741+7T>G	XP_005258940.1:n.741+7T>G
XR_935823.1:n.2176+7T>G
XR_002958313.1:n.2322+7T>G
NM_002250.3:c.930+7T>G MANE Select	NP_002241.1:n.930+7T>G