Canonical Allele Identifier: CA507746429

Gene: KCNN4

Linked Data

• dbSNP Id: rs1386295288
• gnomAD v2: 19-44273964-G-T
• MyVariant Identifiers: chr19:g.44273964G>T (hg19) ; chr19:g.43769812G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43769812G>T , CM000681.2:g.43769812G>T	GRCh38
NC_000019.9:g.44273964G>T , CM000681.1:g.44273964G>T	GRCh37
NC_000019.8:g.48965804G>T	NCBI36
NG_052672.1:g.17328C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000601549.2:n.459C>A
ENST00000648053.1:n.269C>A
ENST00000648319.1:c.837C>A MANE Select	ENSP00000496939.1:p.Ala279=
ENST00000262888.7:c.837C>A	ENSP00000262888.3:p.Ala279=
ENST00000598836.1:c.16C>A
ENST00000599720.5:c.*107C>A	ENSP00000472513.1:n.*107C>A
ENST00000600408.1:c.126C>A	ENSP00000472510.1:p.Ala42=
ENST00000601549.1:n.146C>A
ENST00000615047.4:c.441C>A	ENSP00000485014.1:p.Ala147=
NM_002250.2:c.837C>A	NP_002241.1:p.Ala279=
XM_005258882.2:c.741C>A	XP_005258939.1:p.Ala247=
XM_005258883.2:c.648C>A	XP_005258940.1:p.Ala216=
XR_935823.1:n.2083C>A
XR_002958313.1:n.2229C>A
NM_002250.3:c.837C>A MANE Select	NP_002241.1:p.Ala279=