Canonical Allele Identifier: CA406198733

Gene: KCNN4

Linked Data

• MyVariant Identifiers: chr19:g.44273957C>G (hg19) ; chr19:g.43769805C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43769805C>G , CM000681.2:g.43769805C>G	GRCh38
NC_000019.9:g.44273957C>G , CM000681.1:g.44273957C>G	GRCh37
NC_000019.8:g.48965797C>G	NCBI36
NG_052672.1:g.17335G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000601549.2:n.466G>C
ENST00000648053.1:n.276G>C
ENST00000648319.1:c.844G>C MANE Select	ENSP00000496939.1:p.Val282Leu
ENST00000262888.7:c.844G>C	ENSP00000262888.3:p.Val282Leu
ENST00000598836.1:c.23G>C
ENST00000599720.5:c.*114G>C	ENSP00000472513.1:n.*114G>C
ENST00000600408.1:c.133G>C	ENSP00000472510.1:p.Val45Leu
ENST00000601549.1:n.153G>C
ENST00000615047.4:c.448G>C	ENSP00000485014.1:p.Val150Leu
NM_002250.2:c.844G>C	NP_002241.1:p.Val282Leu
XM_005258882.2:c.748G>C	XP_005258939.1:p.Val250Leu
XM_005258883.2:c.655G>C	XP_005258940.1:p.Val219Leu
XR_935823.1:n.2090G>C
XR_002958313.1:n.2236G>C
NM_002250.3:c.844G>C MANE Select	NP_002241.1:p.Val282Leu