Canonical Allele Identifier: CA369654195

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143049005G>C (hg19) ; chr7:g.143351912G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351912G>C , CM000669.2:g.143351912G>C	GRCh38
NC_000007.13:g.143049005G>C , CM000669.1:g.143049005G>C	GRCh37
NC_000007.12:g.142759127G>C	NCBI36
NG_009815.1:g.40787G>C
NG_009815.2:g.40787G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2914G>C	ENSP00000498052.2:p.Gly972Arg
ENST00000343257.7:c.2914G>C MANE Select	ENSP00000339867.2:p.Gly972Arg
ENST00000343257.6:c.2914G>C	ENSP00000339867.2:p.Gly972Arg
NM_000083.2:c.2914G>C	NP_000074.2:p.Gly972Arg
NR_046453.1:n.2854G>C
XM_011515781.1:c.2938G>C	XP_011514083.1:p.Gly980Arg
XM_011515782.1:c.1660G>C	XP_011514084.1:p.Gly554Arg
XM_011515782.2:c.1660G>C	XP_011514084.1:p.Gly554Arg
XM_017011739.1:c.2488G>C	XP_016867228.1:p.Gly830Arg
XM_017011740.1:c.2464G>C	XP_016867229.1:p.Gly822Arg
NM_000083.3:c.2914G>C MANE Select	NP_000074.3:p.Gly972Arg
NR_046453.2:n.2869G>C