Canonical Allele Identifier: CA406198187

Gene: KCNN4

Linked Data

• MyVariant Identifiers: chr19:g.44273905T>A (hg19) ; chr19:g.43769753T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43769753T>A , CM000681.2:g.43769753T>A	GRCh38
NC_000019.9:g.44273905T>A , CM000681.1:g.44273905T>A	GRCh37
NC_000019.8:g.48965745T>A	NCBI36
NG_052672.1:g.17387A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000601549.2:n.518A>T
ENST00000648053.1:n.328A>T
ENST00000648319.1:c.896A>T MANE Select	ENSP00000496939.1:p.His299Leu
ENST00000262888.7:c.896A>T	ENSP00000262888.3:p.His299Leu
ENST00000598836.1:c.75A>T
ENST00000599720.5:c.*166A>T	ENSP00000472513.1:n.*166A>T
ENST00000600408.1:c.185A>T	ENSP00000472510.1:p.His62Leu
ENST00000601549.1:n.205A>T
ENST00000615047.4:c.500A>T	ENSP00000485014.1:p.His167Leu
NM_002250.2:c.896A>T	NP_002241.1:p.His299Leu
XM_005258882.2:c.800A>T	XP_005258939.1:p.His267Leu
XM_005258883.2:c.707A>T	XP_005258940.1:p.His236Leu
XR_935823.1:n.2142A>T
XR_002958313.1:n.2288A>T
NM_002250.3:c.896A>T MANE Select	NP_002241.1:p.His299Leu