Canonical Allele Identifier: CA2685378294

Gene: CLCN1

Linked Data

• gnomAD v4: 7-143339201-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143339201A>C , CM000669.2:g.143339201A>C	GRCh38
NC_000007.13:g.143036294A>C , CM000669.1:g.143036294A>C	GRCh37
NC_000007.12:g.142746416A>C	NCBI36
NG_009815.1:g.28076A>C
NG_009815.2:g.28076A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1402-52A>C	ENSP00000498052.2:n.1402-52A>C
ENST00000343257.7:c.1402-52A>C MANE Select	ENSP00000339867.2:n.1402-52A>C
ENST00000432192.6:c.1226-52A>C
ENST00000343257.6:c.1402-52A>C	ENSP00000339867.2:n.1402-52A>C
NM_000083.2:c.1402-52A>C	NP_000074.2:n.1402-52A>C
NR_046453.1:n.1342-52A>C
XM_011515781.1:c.1426-52A>C	XP_011514083.1:n.1426-52A>C
XM_011515782.1:c.148-52A>C	XP_011514084.1:n.148-52A>C
XM_011515782.2:c.148-52A>C	XP_011514084.1:n.148-52A>C
XM_017011739.1:c.976-52A>C	XP_016867228.1:n.976-52A>C
XM_017011740.1:c.952-52A>C	XP_016867229.1:n.952-52A>C
NM_000083.3:c.1402-52A>C MANE Select	NP_000074.3:n.1402-52A>C
NR_046453.2:n.1357-52A>C