Canonical Allele Identifier: CA406198021

Gene: KCNN4

Linked Data

• MyVariant Identifiers: chr19:g.44273888T>A (hg19) ; chr19:g.43769736T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43769736T>A , CM000681.2:g.43769736T>A	GRCh38
NC_000019.9:g.44273888T>A , CM000681.1:g.44273888T>A	GRCh37
NC_000019.8:g.48965728T>A	NCBI36
NG_052672.1:g.17404A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000601549.2:n.535A>T
ENST00000648053.1:n.345A>T
ENST00000648319.1:c.913A>T MANE Select	ENSP00000496939.1:p.Ile305Phe
ENST00000262888.7:c.913A>T	ENSP00000262888.3:p.Ile305Phe
ENST00000598836.1:c.92A>T
ENST00000599720.5:c.*183A>T	ENSP00000472513.1:n.*183A>T
ENST00000600408.1:c.202A>T	ENSP00000472510.1:p.Ile68Phe
ENST00000601549.1:n.222A>T
ENST00000615047.4:c.517A>T	ENSP00000485014.1:p.Ile173Phe
NM_002250.2:c.913A>T	NP_002241.1:p.Ile305Phe
XM_005258882.2:c.817A>T	XP_005258939.1:p.Ile273Phe
XM_005258883.2:c.724A>T	XP_005258940.1:p.Ile242Phe
XR_935823.1:n.2159A>T
XR_002958313.1:n.2305A>T
NM_002250.3:c.913A>T MANE Select	NP_002241.1:p.Ile305Phe