Canonical Allele Identifier: CA406198477

Gene: KCNN4

Linked Data

• MyVariant Identifiers: chr19:g.44273931C>A (hg19) ; chr19:g.43769779C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43769779C>A , CM000681.2:g.43769779C>A	GRCh38
NC_000019.9:g.44273931C>A , CM000681.1:g.44273931C>A	GRCh37
NC_000019.8:g.48965771C>A	NCBI36
NG_052672.1:g.17361G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000601549.2:n.492G>T
ENST00000648053.1:n.302G>T
ENST00000648319.1:c.870G>T MANE Select	ENSP00000496939.1:p.Glu290Asp
ENST00000262888.7:c.870G>T	ENSP00000262888.3:p.Glu290Asp
ENST00000598836.1:c.49G>T
ENST00000599720.5:c.*140G>T	ENSP00000472513.1:n.*140G>T
ENST00000600408.1:c.159G>T	ENSP00000472510.1:p.Glu53Asp
ENST00000601549.1:n.179G>T
ENST00000615047.4:c.474G>T	ENSP00000485014.1:p.Glu158Asp
NM_002250.2:c.870G>T	NP_002241.1:p.Glu290Asp
XM_005258882.2:c.774G>T	XP_005258939.1:p.Glu258Asp
XM_005258883.2:c.681G>T	XP_005258940.1:p.Glu227Asp
XR_935823.1:n.2116G>T
XR_002958313.1:n.2262G>T
NM_002250.3:c.870G>T MANE Select	NP_002241.1:p.Glu290Asp