Canonical Allele Identifier: CA2685380484

Gene: CLCN1

Linked Data

• gnomAD v4: 7-143350539-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143350539A>C , CM000669.2:g.143350539A>C	GRCh38
NC_000007.13:g.143047632A>C , CM000669.1:g.143047632A>C	GRCh37
NC_000007.12:g.142757754A>C	NCBI36
NG_009815.1:g.39414A>C
NG_009815.2:g.39414A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2509-29A>C	ENSP00000498052.2:n.2509-29A>C
ENST00000343257.7:c.2509-29A>C MANE Select	ENSP00000339867.2:n.2509-29A>C
ENST00000432192.6:c.2333-29A>C
ENST00000343257.6:c.2509-29A>C	ENSP00000339867.2:n.2509-29A>C
NM_000083.2:c.2509-29A>C	NP_000074.2:n.2509-29A>C
NR_046453.1:n.2449-29A>C
XM_011515781.1:c.2533-29A>C	XP_011514083.1:n.2533-29A>C
XM_011515782.1:c.1255-29A>C	XP_011514084.1:n.1255-29A>C
XM_011515782.2:c.1255-29A>C	XP_011514084.1:n.1255-29A>C
XM_017011739.1:c.2083-29A>C	XP_016867228.1:n.2083-29A>C
XM_017011740.1:c.2059-29A>C	XP_016867229.1:n.2059-29A>C
NM_000083.3:c.2509-29A>C MANE Select	NP_000074.3:n.2509-29A>C
NR_046453.2:n.2464-29A>C