Canonical Allele Identifier: CA9491883

Gene: KCNN4

Linked Data

• dbSNP Id: rs201366723
• ExAC: 19:44273928 A / C
• gnomAD v2: 19-44273928-A-C
• gnomAD v3: 19-43769776-A-C
• gnomAD v4: 19-43769776-A-C
• MyVariant Identifiers: chr19:g.44273928A>C (hg19) ; chr19:g.43769776A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43769776A>C , CM000681.2:g.43769776A>C	GRCh38
NC_000019.9:g.44273928A>C , CM000681.1:g.44273928A>C	GRCh37
NC_000019.8:g.48965768A>C	NCBI36
NG_052672.1:g.17364T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000601549.2:n.495T>G
ENST00000648053.1:n.305T>G
ENST00000648319.1:c.873T>G MANE Select	ENSP00000496939.1:p.Phe291Leu
ENST00000262888.7:c.873T>G	ENSP00000262888.3:p.Phe291Leu
ENST00000598836.1:c.52T>G
ENST00000599720.5:c.*143T>G	ENSP00000472513.1:n.*143T>G
ENST00000600408.1:c.162T>G	ENSP00000472510.1:p.Phe54Leu
ENST00000601549.1:n.182T>G
ENST00000615047.4:c.477T>G	ENSP00000485014.1:p.Phe159Leu
NM_002250.2:c.873T>G	NP_002241.1:p.Phe291Leu
XM_005258882.2:c.777T>G	XP_005258939.1:p.Phe259Leu
XM_005258883.2:c.684T>G	XP_005258940.1:p.Phe228Leu
XR_935823.1:n.2119T>G
XR_002958313.1:n.2265T>G
NM_002250.3:c.873T>G MANE Select	NP_002241.1:p.Phe291Leu