Canonical Allele Identifier: CA369653511

Gene: CLCN1

Linked Data

• dbSNP Id: rs1210107414
• gnomAD v2: 7-143048728-G-C
• gnomAD v3: 7-143351635-G-C
• gnomAD v4: 7-143351635-G-C
• MyVariant Identifiers: chr7:g.143048728G>C (hg19) ; chr7:g.143351635G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351635G>C , CM000669.2:g.143351635G>C	GRCh38
NC_000007.13:g.143048728G>C , CM000669.1:g.143048728G>C	GRCh37
NC_000007.12:g.142758850G>C	NCBI36
NG_009815.1:g.40510G>C
NG_009815.2:g.40510G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.2637G>C	ENSP00000498052.2:p.Gln879His
ENST00000343257.7:c.2637G>C MANE Select	ENSP00000339867.2:p.Gln879His
ENST00000432192.6:c.2461G>C
ENST00000343257.6:c.2637G>C	ENSP00000339867.2:p.Gln879His
NM_000083.2:c.2637G>C	NP_000074.2:p.Gln879His
NR_046453.1:n.2577G>C
XM_011515781.1:c.2661G>C	XP_011514083.1:p.Gln887His
XM_011515782.1:c.1383G>C	XP_011514084.1:p.Gln461His
XM_011515782.2:c.1383G>C	XP_011514084.1:p.Gln461His
XM_017011739.1:c.2211G>C	XP_016867228.1:p.Gln737His
XM_017011740.1:c.2187G>C	XP_016867229.1:p.Gln729His
NM_000083.3:c.2637G>C MANE Select	NP_000074.3:p.Gln879His
NR_046453.2:n.2592G>C