Canonical Allele Identifier: CA369683670

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143018520A>C (hg19) ; chr7:g.143321427A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321427A>C , CM000669.2:g.143321427A>C	GRCh38
NC_000007.13:g.143018520A>C , CM000669.1:g.143018520A>C	GRCh37
NC_000007.12:g.142728642A>C	NCBI36
NG_009815.1:g.10302A>C
NG_009815.2:g.10302A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.496A>C	ENSP00000498052.2:p.Thr166Pro
ENST00000343257.7:c.496A>C MANE Select	ENSP00000339867.2:p.Thr166Pro
ENST00000432192.6:c.264A>C
ENST00000650516.1:c.496A>C	ENSP00000498052.1:p.Thr166Pro
ENST00000343257.6:c.496A>C	ENSP00000339867.2:p.Thr166Pro
NM_000083.2:c.496A>C	NP_000074.2:p.Thr166Pro
NR_046453.1:n.583A>C
XM_011515781.1:c.496A>C	XP_011514083.1:p.Thr166Pro
XM_017011739.1:c.203A>C	XP_016867228.1:p.His68Pro
XM_017011740.1:c.203A>C	XP_016867229.1:p.His68Pro
NM_000083.3:c.496A>C MANE Select	NP_000074.3:p.Thr166Pro
NR_046453.2:n.598A>C