Canonical Allele Identifier: CA406198762

Gene: KCNN4

Linked Data

• ClinVar Variation Id: 2433020
• ClinVar RCV Id: RCV003131325
• MyVariant Identifiers: chr19:g.44273962A>T (hg19) ; chr19:g.43769810A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43769810A>T , CM000681.2:g.43769810A>T	GRCh38
NC_000019.9:g.44273962A>T , CM000681.1:g.44273962A>T	GRCh37
NC_000019.8:g.48965802A>T	NCBI36
NG_052672.1:g.17330T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000601549.2:n.461T>A
ENST00000648053.1:n.271T>A
ENST00000648319.1:c.839T>A MANE Select	ENSP00000496939.1:p.Leu280Gln
ENST00000262888.7:c.839T>A	ENSP00000262888.3:p.Leu280Gln
ENST00000598836.1:c.18T>A
ENST00000599720.5:c.*109T>A	ENSP00000472513.1:n.*109T>A
ENST00000600408.1:c.128T>A	ENSP00000472510.1:p.Leu43Gln
ENST00000601549.1:n.148T>A
ENST00000615047.4:c.443T>A	ENSP00000485014.1:p.Leu148Gln
NM_002250.2:c.839T>A	NP_002241.1:p.Leu280Gln
XM_005258882.2:c.743T>A	XP_005258939.1:p.Leu248Gln
XM_005258883.2:c.650T>A	XP_005258940.1:p.Leu217Gln
XR_935823.1:n.2085T>A
XR_002958313.1:n.2231T>A
NM_002250.3:c.839T>A MANE Select	NP_002241.1:p.Leu280Gln