Canonical Allele Identifier: CA14676789

Gene: KCNN4

Linked Data

• dbSNP Id: rs3786954
• gnomAD v2: 19-44272346-A-G
• gnomAD v3: 19-43768194-A-G
• gnomAD v4: 19-43768194-A-G
• MyVariant Identifiers: chr19:g.44272346A>G (hg19) ; chr19:g.43768194A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43768194A>G , CM000681.2:g.43768194A>G	GRCh38
NC_000019.9:g.44272346A>G , CM000681.1:g.44272346A>G	GRCh37
NC_000019.8:g.48964186A>G	NCBI36
NG_052672.1:g.18946T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000601549.2:n.1151-487T>C
ENST00000648053.1:n.552-487T>C
ENST00000648319.1:c.1120-487T>C MANE Select	ENSP00000496939.1:n.1120-487T>C
ENST00000262888.7:c.1120-487T>C	ENSP00000262888.3:n.1120-487T>C
ENST00000597184.5:n.196-487T>C
ENST00000598836.1:c.332-487T>C
ENST00000599720.5:c.*390-487T>C	ENSP00000472513.1:n.*390-487T>C
ENST00000600408.1:c.518-487T>C	ENSP00000472510.1:n.518-487T>C
ENST00000600909.1:c.16-487T>C	ENSP00000470339.1:n.16-487T>C
ENST00000601549.1:n.838-487T>C
ENST00000615047.4:c.724-487T>C	ENSP00000485014.1:n.724-487T>C
NM_002250.2:c.1120-487T>C	NP_002241.1:n.1120-487T>C
XM_005258882.2:c.1024-487T>C	XP_005258939.1:n.1024-487T>C
XM_005258883.2:c.931-487T>C	XP_005258940.1:n.931-487T>C
XR_935823.1:n.2366-487T>C
XR_002958313.1:n.2512-487T>C
NM_002250.3:c.1120-487T>C MANE Select	NP_002241.1:n.1120-487T>C