Canonical Allele Identifier: CA882569743

Gene: KCNN4

Linked Data

• dbSNP Id: rs59704354
• gnomAD v3: 19-43776127-C-CAA
• gnomAD v4: 19-43776127-C-CAA
• MyVariant Identifiers: chr19:g.44280279_44280280insAA (hg19) ; chr19:g.43776127_43776128insAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43776155_43776156dup , CM000681.2:g.43776155_43776156dup	GRCh38
NC_000019.9:g.44280307_44280308dup , CM000681.1:g.44280307_44280308dup	GRCh37
NC_000019.8:g.48972147_48972148dup	NCBI36
NG_052672.1:g.11011_11012dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648319.1:c.255+412_255+413dup MANE Select	ENSP00000496939.1:n.255+412_255+413dup
ENST00000262888.7:c.255+412_255+413dup	ENSP00000262888.3:n.255+412_255+413dup
ENST00000599107.1:n.286+412_286+413dup
ENST00000599720.5:c.160-4026_160-4025dup	ENSP00000472513.1:n.160-4026_160-4025dup
ENST00000615047.4:c.70+412_70+413dup	ENSP00000485014.1:n.70+412_70+413dup
NM_002250.2:c.255+412_255+413dup	NP_002241.1:n.255+412_255+413dup
XM_005258882.2:c.160-1510_160-1509dup	XP_005258939.1:n.160-1510_160-1509dup
XM_005258883.2:c.70+412_70+413dup	XP_005258940.1:n.70+412_70+413dup
XM_011526938.1:c.255+412_255+413dup	XP_011525240.1:n.255+412_255+413dup
XR_935823.1:n.1533+412_1533+413dup
XR_002958313.1:n.1533+412_1533+413dup
NM_002250.3:c.255+412_255+413dup MANE Select	NP_002241.1:n.255+412_255+413dup