Canonical Allele Identifier: CA406198742

Gene: KCNN4

Linked Data

• dbSNP Id: rs1277193020
• gnomAD v3: 19-43769807-A-G
• gnomAD v4: 19-43769807-A-G
• MyVariant Identifiers: chr19:g.44273959A>G (hg19) ; chr19:g.43769807A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43769807A>G , CM000681.2:g.43769807A>G	GRCh38
NC_000019.9:g.44273959A>G , CM000681.1:g.44273959A>G	GRCh37
NC_000019.8:g.48965799A>G	NCBI36
NG_052672.1:g.17333T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000601549.2:n.464T>C
ENST00000648053.1:n.274T>C
ENST00000648319.1:c.842T>C MANE Select	ENSP00000496939.1:p.Leu281Pro
ENST00000262888.7:c.842T>C	ENSP00000262888.3:p.Leu281Pro
ENST00000598836.1:c.21T>C
ENST00000599720.5:c.*112T>C	ENSP00000472513.1:n.*112T>C
ENST00000600408.1:c.131T>C	ENSP00000472510.1:p.Leu44Pro
ENST00000601549.1:n.151T>C
ENST00000615047.4:c.446T>C	ENSP00000485014.1:p.Leu149Pro
NM_002250.2:c.842T>C	NP_002241.1:p.Leu281Pro
XM_005258882.2:c.746T>C	XP_005258939.1:p.Leu249Pro
XM_005258883.2:c.653T>C	XP_005258940.1:p.Leu218Pro
XR_935823.1:n.2088T>C
XR_002958313.1:n.2234T>C
NM_002250.3:c.842T>C MANE Select	NP_002241.1:p.Leu281Pro