Canonical Allele Identifier: CA406198471

Gene: KCNN4

Linked Data

• MyVariant Identifiers: chr19:g.44273930A>G (hg19) ; chr19:g.43769778A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43769778A>G , CM000681.2:g.43769778A>G	GRCh38
NC_000019.9:g.44273930A>G , CM000681.1:g.44273930A>G	GRCh37
NC_000019.8:g.48965770A>G	NCBI36
NG_052672.1:g.17362T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000601549.2:n.493T>C
ENST00000648053.1:n.303T>C
ENST00000648319.1:c.871T>C MANE Select	ENSP00000496939.1:p.Phe291Leu
ENST00000262888.7:c.871T>C	ENSP00000262888.3:p.Phe291Leu
ENST00000598836.1:c.50T>C
ENST00000599720.5:c.*141T>C	ENSP00000472513.1:n.*141T>C
ENST00000600408.1:c.160T>C	ENSP00000472510.1:p.Phe54Leu
ENST00000601549.1:n.180T>C
ENST00000615047.4:c.475T>C	ENSP00000485014.1:p.Phe159Leu
NM_002250.2:c.871T>C	NP_002241.1:p.Phe291Leu
XM_005258882.2:c.775T>C	XP_005258939.1:p.Phe259Leu
XM_005258883.2:c.682T>C	XP_005258940.1:p.Phe228Leu
XR_935823.1:n.2117T>C
XR_002958313.1:n.2263T>C
NM_002250.3:c.871T>C MANE Select	NP_002241.1:p.Phe291Leu