Canonical Allele Identifier: CA406198142

Gene: KCNN4

Linked Data

• MyVariant Identifiers: chr19:g.44273900A>G (hg19) ; chr19:g.43769748A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43769748A>G , CM000681.2:g.43769748A>G	GRCh38
NC_000019.9:g.44273900A>G , CM000681.1:g.44273900A>G	GRCh37
NC_000019.8:g.48965740A>G	NCBI36
NG_052672.1:g.17392T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000601549.2:n.523T>C
ENST00000648053.1:n.333T>C
ENST00000648319.1:c.901T>C MANE Select	ENSP00000496939.1:p.Phe301Leu
ENST00000262888.7:c.901T>C	ENSP00000262888.3:p.Phe301Leu
ENST00000598836.1:c.80T>C
ENST00000599720.5:c.*171T>C	ENSP00000472513.1:n.*171T>C
ENST00000600408.1:c.190T>C	ENSP00000472510.1:p.Phe64Leu
ENST00000601549.1:n.210T>C
ENST00000615047.4:c.505T>C	ENSP00000485014.1:p.Phe169Leu
NM_002250.2:c.901T>C	NP_002241.1:p.Phe301Leu
XM_005258882.2:c.805T>C	XP_005258939.1:p.Phe269Leu
XM_005258883.2:c.712T>C	XP_005258940.1:p.Phe238Leu
XR_935823.1:n.2147T>C
XR_002958313.1:n.2293T>C
NM_002250.3:c.901T>C MANE Select	NP_002241.1:p.Phe301Leu