Canonical Allele Identifier: CA633277311

Gene: KCNN4

Linked Data

• dbSNP Id: rs1423107330
• gnomAD v2: 19-44280545-A-ATG
• gnomAD v4: 19-43776393-A-ATG
• MyVariant Identifiers: chr19:g.44280545_44280546insTG (hg19) ; chr19:g.43776393_43776394insTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43776394_43776395insGT , CM000681.2:g.43776394_43776395insGT	GRCh38
NC_000019.9:g.44280546_44280547insGT , CM000681.1:g.44280546_44280547insGT	GRCh37
NC_000019.8:g.48972386_48972387insGT	NCBI36
NG_052672.1:g.10746_10747insCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648319.1:c.255+147_255+148insCA MANE Select	ENSP00000496939.1:n.255+147_255+148insCA
ENST00000262888.7:c.255+147_255+148insCA	ENSP00000262888.3:n.255+147_255+148insCA
ENST00000599107.1:n.286+147_286+148insCA
ENST00000599720.5:c.160-4291_160-4290insCA	ENSP00000472513.1:n.160-4291_160-4290insCA
ENST00000615047.4:c.70+147_70+148insCA	ENSP00000485014.1:n.70+147_70+148insCA
NM_002250.2:c.255+147_255+148insCA	NP_002241.1:n.255+147_255+148insCA
XM_005258882.2:c.160-1775_160-1774insCA	XP_005258939.1:n.160-1775_160-1774insCA
XM_005258883.2:c.70+147_70+148insCA	XP_005258940.1:n.70+147_70+148insCA
XM_011526938.1:c.255+147_255+148insCA	XP_011525240.1:n.255+147_255+148insCA
XR_935823.1:n.1533+147_1533+148insCA
XR_002958313.1:n.1533+147_1533+148insCA
NM_002250.3:c.255+147_255+148insCA MANE Select	NP_002241.1:n.255+147_255+148insCA