Canonical Allele Identifier: CA2685383103

Gene: CLCN1

Linked Data

• gnomAD v4: 7-143321636-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321636T>C , CM000669.2:g.143321636T>C	GRCh38
NC_000007.13:g.143018729T>C , CM000669.1:g.143018729T>C	GRCh37
NC_000007.12:g.142728851T>C	NCBI36
NG_009815.1:g.10511T>C
NG_009815.2:g.10511T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.563-79T>C	ENSP00000498052.2:n.563-79T>C
ENST00000343257.7:c.563-79T>C MANE Select	ENSP00000339867.2:n.563-79T>C
ENST00000432192.6:c.331-79T>C
ENST00000455478.6:c.17-79T>C	ENSP00000400027.2:n.17-79T>C
ENST00000650516.1:c.563-79T>C	ENSP00000498052.1:n.563-79T>C
ENST00000343257.6:c.563-79T>C	ENSP00000339867.2:n.563-79T>C
ENST00000432192.5:c.21-79T>C
ENST00000455478.5:c.21-79T>C
ENST00000495612.1:n.21-79T>C
NM_000083.2:c.563-79T>C	NP_000074.2:n.563-79T>C
NR_046453.1:n.650-79T>C
XM_011515781.1:c.563-79T>C	XP_011514083.1:n.563-79T>C
XM_017011739.1:c.270-79T>C	XP_016867228.1:n.270-79T>C
XM_017011740.1:c.270-79T>C	XP_016867229.1:n.270-79T>C
NM_000083.3:c.563-79T>C MANE Select	NP_000074.3:n.563-79T>C
NR_046453.2:n.665-79T>C