Canonical Allele Identifier: CA882570016

Gene: KCNN4

Linked Data

• dbSNP Id: rs1329708252
• gnomAD v3: 19-43776492-C-CGCTGAGGG
• gnomAD v4: 19-43776492-C-CGCTGAGGG
• MyVariant Identifiers: chr19:g.44280644_44280645insGCTGAGGG (hg19) ; chr19:g.43776492_43776493insGCTGAGGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43776494_43776501dup , CM000681.2:g.43776494_43776501dup	GRCh38
NC_000019.9:g.44280646_44280653dup , CM000681.1:g.44280646_44280653dup	GRCh37
NC_000019.8:g.48972486_48972493dup	NCBI36
NG_052672.1:g.10640_10647dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648319.1:c.255+41_255+48dup MANE Select	ENSP00000496939.1:n.255+41_255+48dup
ENST00000262888.7:c.255+41_255+48dup	ENSP00000262888.3:n.255+41_255+48dup
ENST00000599107.1:n.286+41_286+48dup
ENST00000599720.5:c.159+4203_159+4210dup	ENSP00000472513.1:n.159+4203_159+4210dup
ENST00000615047.4:c.70+41_70+48dup	ENSP00000485014.1:n.70+41_70+48dup
NM_002250.2:c.255+41_255+48dup	NP_002241.1:n.255+41_255+48dup
XM_005258882.2:c.160-1881_160-1874dup	XP_005258939.1:n.160-1881_160-1874dup
XM_005258883.2:c.70+41_70+48dup	XP_005258940.1:n.70+41_70+48dup
XM_011526938.1:c.255+41_255+48dup	XP_011525240.1:n.255+41_255+48dup
XR_935823.1:n.1533+41_1533+48dup
XR_002958313.1:n.1533+41_1533+48dup
NM_002250.3:c.255+41_255+48dup MANE Select	NP_002241.1:n.255+41_255+48dup