Canonical Allele Identifier: CA2685379258

Gene: CLCN1

Linked Data

• gnomAD v4: 7-143331129-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143331129G>C , CM000669.2:g.143331129G>C	GRCh38
NC_000007.13:g.143028222G>C , CM000669.1:g.143028222G>C	GRCh37
NC_000007.12:g.142738344G>C	NCBI36
NG_009815.1:g.20004G>C
NG_009815.2:g.20004G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.980-103G>C	ENSP00000498052.2:n.980-103G>C
ENST00000343257.7:c.980-103G>C MANE Select	ENSP00000339867.2:n.980-103G>C
ENST00000432192.6:c.804-103G>C
ENST00000343257.6:c.980-103G>C	ENSP00000339867.2:n.980-103G>C
NM_000083.2:c.980-103G>C	NP_000074.2:n.980-103G>C
NR_046453.1:n.1070-103G>C
XM_011515781.1:c.980-103G>C	XP_011514083.1:n.980-103G>C
XM_017011739.1:c.530-103G>C	XP_016867228.1:n.530-103G>C
XM_017011740.1:c.530-103G>C	XP_016867229.1:n.530-103G>C
NM_000083.3:c.980-103G>C MANE Select	NP_000074.3:n.980-103G>C
NR_046453.2:n.1085-103G>C