Canonical Allele Identifier: CA308795152

Gene: KCNN4

Linked Data

• dbSNP Id: rs200901996
• gnomAD v2: 19-44280478-G-GA
• gnomAD v3: 19-43776326-G-GA
• gnomAD v4: 19-43776326-G-GA
• MyVariant Identifiers: chr19:g.44280478_44280479insA (hg19) ; chr19:g.43776326_43776327insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43776326_43776327insA , CM000681.2:g.43776326_43776327insA	GRCh38
NC_000019.9:g.44280478_44280479insA , CM000681.1:g.44280478_44280479insA	GRCh37
NC_000019.8:g.48972318_48972319insA	NCBI36
NG_052672.1:g.10813_10814insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648319.1:c.255+214_255+215insT MANE Select	ENSP00000496939.1:n.255+214_255+215insT
ENST00000262888.7:c.255+214_255+215insT	ENSP00000262888.3:n.255+214_255+215insT
ENST00000599107.1:n.286+214_286+215insT
ENST00000599720.5:c.160-4224_160-4223insT	ENSP00000472513.1:n.160-4224_160-4223insT
ENST00000615047.4:c.70+214_70+215insT	ENSP00000485014.1:n.70+214_70+215insT
NM_002250.2:c.255+214_255+215insT	NP_002241.1:n.255+214_255+215insT
XM_005258882.2:c.160-1708_160-1707insT	XP_005258939.1:n.160-1708_160-1707insT
XM_005258883.2:c.70+214_70+215insT	XP_005258940.1:n.70+214_70+215insT
XM_011526938.1:c.255+214_255+215insT	XP_011525240.1:n.255+214_255+215insT
XR_935823.1:n.1533+214_1533+215insT
XR_002958313.1:n.1533+214_1533+215insT
NM_002250.3:c.255+214_255+215insT MANE Select	NP_002241.1:n.255+214_255+215insT