Canonical Allele Identifier: CA406198532

Gene: KCNN4

Linked Data

• MyVariant Identifiers: chr19:g.44273938T>A (hg19) ; chr19:g.43769786T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43769786T>A , CM000681.2:g.43769786T>A	GRCh38
NC_000019.9:g.44273938T>A , CM000681.1:g.44273938T>A	GRCh37
NC_000019.8:g.48965778T>A	NCBI36
NG_052672.1:g.17354A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000601549.2:n.485A>T
ENST00000648053.1:n.295A>T
ENST00000648319.1:c.863A>T MANE Select	ENSP00000496939.1:p.Lys288Met
ENST00000262888.7:c.863A>T	ENSP00000262888.3:p.Lys288Met
ENST00000598836.1:c.42A>T
ENST00000599720.5:c.*133A>T	ENSP00000472513.1:n.*133A>T
ENST00000600408.1:c.152A>T	ENSP00000472510.1:p.Lys51Met
ENST00000601549.1:n.172A>T
ENST00000615047.4:c.467A>T	ENSP00000485014.1:p.Lys156Met
NM_002250.2:c.863A>T	NP_002241.1:p.Lys288Met
XM_005258882.2:c.767A>T	XP_005258939.1:p.Lys256Met
XM_005258883.2:c.674A>T	XP_005258940.1:p.Lys225Met
XR_935823.1:n.2109A>T
XR_002958313.1:n.2255A>T
NM_002250.3:c.863A>T MANE Select	NP_002241.1:p.Lys288Met