Canonical Allele Identifier: CA369653967

Gene: CLCN1

Linked Data

• gnomAD v4: 7-143351852-G-C
• MyVariant Identifiers: chr7:g.143048945G>C (hg19) ; chr7:g.143351852G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351852G>C , CM000669.2:g.143351852G>C	GRCh38
NC_000007.13:g.143048945G>C , CM000669.1:g.143048945G>C	GRCh37
NC_000007.12:g.142759067G>C	NCBI36
NG_009815.1:g.40727G>C
NG_009815.2:g.40727G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2854G>C	ENSP00000498052.2:p.Glu952Gln
ENST00000343257.7:c.2854G>C MANE Select	ENSP00000339867.2:p.Glu952Gln
ENST00000343257.6:c.2854G>C	ENSP00000339867.2:p.Glu952Gln
NM_000083.2:c.2854G>C	NP_000074.2:p.Glu952Gln
NR_046453.1:n.2794G>C
XM_011515781.1:c.2878G>C	XP_011514083.1:p.Glu960Gln
XM_011515782.1:c.1600G>C	XP_011514084.1:p.Glu534Gln
XM_011515782.2:c.1600G>C	XP_011514084.1:p.Glu534Gln
XM_017011739.1:c.2428G>C	XP_016867228.1:p.Glu810Gln
XM_017011740.1:c.2404G>C	XP_016867229.1:p.Glu802Gln
NM_000083.3:c.2854G>C MANE Select	NP_000074.3:p.Glu952Gln
NR_046453.2:n.2809G>C