Canonical Allele Identifier: CA507746428

Gene: KCNN4

Linked Data

• gnomAD v4: 19-43769812-G-C
• MyVariant Identifiers: chr19:g.44273964G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43769812G>C , CM000681.2:g.43769812G>C	GRCh38
NC_000019.9:g.44273964G>C , CM000681.1:g.44273964G>C	GRCh37
NC_000019.8:g.48965804G>C	NCBI36
NG_052672.1:g.17328C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000601549.2:n.459C>G
ENST00000648053.1:n.269C>G
ENST00000648319.1:c.837C>G MANE Select	ENSP00000496939.1:p.Ala279=
ENST00000262888.7:c.837C>G	ENSP00000262888.3:p.Ala279=
ENST00000598836.1:c.16C>G
ENST00000599720.5:c.*107C>G	ENSP00000472513.1:n.*107C>G
ENST00000600408.1:c.126C>G	ENSP00000472510.1:p.Ala42=
ENST00000601549.1:n.146C>G
ENST00000615047.4:c.441C>G	ENSP00000485014.1:p.Ala147=
NM_002250.2:c.837C>G	NP_002241.1:p.Ala279=
XM_005258882.2:c.741C>G	XP_005258939.1:p.Ala247=
XM_005258883.2:c.648C>G	XP_005258940.1:p.Ala216=
XR_935823.1:n.2083C>G
XR_002958313.1:n.2229C>G
NM_002250.3:c.837C>G MANE Select	NP_002241.1:p.Ala279=