Canonical Allele Identifier: CA338641953

Gene: CLCNKB

Linked Data

• gnomAD v4: 1-16052209-T-C
• MyVariant Identifiers: chr1:g.16378704T>C (hg19) ; chr1:g.16052209T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16052209T>C , CM000663.2:g.16052209T>C	GRCh38
NC_000001.10:g.16378704T>C , CM000663.1:g.16378704T>C	GRCh37
NC_000001.9:g.16251291T>C	NCBI36
NG_013079.1:g.13458T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682338.1:c.1420T>C	ENSP00000507062.1:p.Phe474Leu
ENST00000682793.1:c.1420T>C	ENSP00000506910.1:p.Phe474Leu
ENST00000682838.1:c.*1162T>C	ENSP00000507652.1:n.*1162T>C
ENST00000683578.1:c.1420T>C	ENSP00000507430.1:p.Phe474Leu
ENST00000683606.1:n.1026T>C
ENST00000683661.1:n.2955T>C
ENST00000684324.1:c.1420T>C	ENSP00000507937.1:p.Phe474Leu
ENST00000684545.1:c.1420T>C	ENSP00000506733.1:p.Phe474Leu
ENST00000684624.1:n.797T>C
ENST00000684714.1:c.1420T>C	ENSP00000506861.1:p.Phe474Leu
ENST00000684731.1:n.881T>C
ENST00000375679.9:c.1420T>C MANE Select	ENSP00000364831.5:p.Phe474Leu
ENST00000375667.7:c.913T>C	ENSP00000364819.3:p.Phe305Leu
ENST00000375679.8:c.1420T>C	ENSP00000364831.4:p.Phe474Leu
ENST00000619181.4:c.1039T>C	ENSP00000483866.1:p.Phe347Leu
NM_000085.4:c.1420T>C	NP_000076.2:p.Phe474Leu
NM_001165945.2:c.913T>C	NP_001159417.2:p.Phe305Leu
XM_011540619.1:c.1261T>C	XP_011538921.1:p.Phe421Leu
XM_011540620.1:c.1420T>C	XP_011538922.1:p.Phe474Leu
XM_011540621.1:c.769T>C	XP_011538923.1:p.Phe257Leu
NM_000085.5:c.1420T>C MANE Select	NP_000076.2:p.Phe474Leu