Canonical Allele Identifier: CA168256232

Gene: CLCN1

Linked Data

• dbSNP Id: rs933342820
• gnomAD v3: 7-143321735-A-C
• gnomAD v4: 7-143321735-A-C
• MyVariant Identifiers: chr7:g.143018828A>C (hg19) ; chr7:g.143321735A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321735A>C , CM000669.2:g.143321735A>C	GRCh38
NC_000007.13:g.143018828A>C , CM000669.1:g.143018828A>C	GRCh37
NC_000007.12:g.142728950A>C	NCBI36
NG_009815.1:g.10610A>C
NG_009815.2:g.10610A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.583A>C	ENSP00000498052.2:p.Lys195Gln
ENST00000343257.7:c.583A>C MANE Select	ENSP00000339867.2:p.Lys195Gln
ENST00000432192.6:c.351A>C
ENST00000455478.6:c.37A>C	ENSP00000400027.2:p.Lys13Gln
ENST00000650516.1:c.583A>C	ENSP00000498052.1:p.Lys195Gln
ENST00000343257.6:c.583A>C	ENSP00000339867.2:p.Lys195Gln
ENST00000432192.5:c.41A>C
ENST00000455478.5:c.41A>C
ENST00000495612.1:n.41A>C
NM_000083.2:c.583A>C	NP_000074.2:p.Lys195Gln
NR_046453.1:n.670A>C
XM_011515781.1:c.583A>C	XP_011514083.1:p.Lys195Gln
XM_017011739.1:c.290A>C	XP_016867228.1:p.Glu97Ala
XM_017011740.1:c.290A>C	XP_016867229.1:p.Glu97Ala
NM_000083.3:c.583A>C MANE Select	NP_000074.3:p.Lys195Gln
NR_046453.2:n.685A>C