Canonical Allele Identifier: CA308795205

Gene: KCNN4

Linked Data

• dbSNP Id: rs1008801138
• gnomAD v2: 19-44280618-AG-A
• gnomAD v3: 19-43776466-AG-A
• gnomAD v4: 19-43776466-AG-A
• MyVariant Identifiers: chr19:g.44280619del (hg19) ; chr19:g.43776467del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43776469del , CM000681.2:g.43776469del	GRCh38
NC_000019.9:g.44280621del , CM000681.1:g.44280621del	GRCh37
NC_000019.8:g.48972461del	NCBI36
NG_052672.1:g.10673del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648319.1:c.255+74del MANE Select	ENSP00000496939.1:n.255+74del
ENST00000262888.7:c.255+74del	ENSP00000262888.3:n.255+74del
ENST00000599107.1:n.286+74del
ENST00000599720.5:c.159+4236del	ENSP00000472513.1:n.159+4236del
ENST00000615047.4:c.70+74del	ENSP00000485014.1:n.70+74del
NM_002250.2:c.255+74del	NP_002241.1:n.255+74del
XM_005258882.2:c.160-1848del	XP_005258939.1:n.160-1848del
XM_005258883.2:c.70+74del	XP_005258940.1:n.70+74del
XM_011526938.1:c.255+74del	XP_011525240.1:n.255+74del
XR_935823.1:n.1533+74del
XR_002958313.1:n.1533+74del
NM_002250.3:c.255+74del MANE Select	NP_002241.1:n.255+74del