Canonical Allele Identifier: CA406198174

Gene: KCNN4

Linked Data

• MyVariant Identifiers: chr19:g.44273903T>G (hg19) ; chr19:g.43769751T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43769751T>G , CM000681.2:g.43769751T>G	GRCh38
NC_000019.9:g.44273903T>G , CM000681.1:g.44273903T>G	GRCh37
NC_000019.8:g.48965743T>G	NCBI36
NG_052672.1:g.17389A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000601549.2:n.520A>C
ENST00000648053.1:n.330A>C
ENST00000648319.1:c.898A>C MANE Select	ENSP00000496939.1:p.Asn300His
ENST00000262888.7:c.898A>C	ENSP00000262888.3:p.Asn300His
ENST00000598836.1:c.77A>C
ENST00000599720.5:c.*168A>C	ENSP00000472513.1:n.*168A>C
ENST00000600408.1:c.187A>C	ENSP00000472510.1:p.Asn63His
ENST00000601549.1:n.207A>C
ENST00000615047.4:c.502A>C	ENSP00000485014.1:p.Asn168His
NM_002250.2:c.898A>C	NP_002241.1:p.Asn300His
XM_005258882.2:c.802A>C	XP_005258939.1:p.Asn268His
XM_005258883.2:c.709A>C	XP_005258940.1:p.Asn237His
XR_935823.1:n.2144A>C
XR_002958313.1:n.2290A>C
NM_002250.3:c.898A>C MANE Select	NP_002241.1:p.Asn300His