Canonical Allele Identifier: CA9491895

Gene: KCNN4

Linked Data

• dbSNP Id: rs747587774
• ExAC: 19:44273978 C / T
• gnomAD v2: 19-44273978-C-T
• gnomAD v3: 19-43769826-C-T
• gnomAD v4: 19-43769826-C-T
• MyVariant Identifiers: chr19:g.44273978C>T (hg19) ; chr19:g.43769826C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43769826C>T , CM000681.2:g.43769826C>T	GRCh38
NC_000019.9:g.44273978C>T , CM000681.1:g.44273978C>T	GRCh37
NC_000019.8:g.48965818C>T	NCBI36
NG_052672.1:g.17314G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000601549.2:n.445G>A
ENST00000648053.1:n.255G>A
ENST00000648319.1:c.823G>A MANE Select	ENSP00000496939.1:p.Val275Ile
ENST00000262888.7:c.823G>A	ENSP00000262888.3:p.Val275Ile
ENST00000598836.1:c.2G>A
ENST00000599720.5:c.*93G>A	ENSP00000472513.1:n.*93G>A
ENST00000600408.1:c.112G>A	ENSP00000472510.1:p.Val38Ile
ENST00000601549.1:n.132G>A
ENST00000615047.4:c.427G>A	ENSP00000485014.1:p.Val143Ile
NM_002250.2:c.823G>A	NP_002241.1:p.Val275Ile
XM_005258882.2:c.727G>A	XP_005258939.1:p.Val243Ile
XM_005258883.2:c.634G>A	XP_005258940.1:p.Val212Ile
XR_935823.1:n.2069G>A
XR_002958313.1:n.2215G>A
NM_002250.3:c.823G>A MANE Select	NP_002241.1:p.Val275Ile