Canonical Allele Identifier: CA369646485

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 2951603
• ClinVar RCV Id: RCV003812290
• MyVariant Identifiers: chr7:g.143039091G>C (hg19) ; chr7:g.143341998G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143341998G>C , CM000669.2:g.143341998G>C	GRCh38
NC_000007.13:g.143039091G>C , CM000669.1:g.143039091G>C	GRCh37
NC_000007.12:g.142749213G>C	NCBI36
NG_009815.1:g.30873G>C
NG_009815.2:g.30873G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1652G>C	ENSP00000498052.2:p.Gly551Ala
ENST00000343257.7:c.1652G>C MANE Select	ENSP00000339867.2:p.Gly551Ala
ENST00000432192.6:c.1476G>C
ENST00000343257.6:c.1652G>C	ENSP00000339867.2:p.Gly551Ala
NM_000083.2:c.1652G>C	NP_000074.2:p.Gly551Ala
NR_046453.1:n.1592G>C
XM_011515781.1:c.1676G>C	XP_011514083.1:p.Gly559Ala
XM_011515782.1:c.398G>C	XP_011514084.1:p.Gly133Ala
XM_011515782.2:c.398G>C	XP_011514084.1:p.Gly133Ala
XM_017011739.1:c.1226G>C	XP_016867228.1:p.Gly409Ala
XM_017011740.1:c.1202G>C	XP_016867229.1:p.Gly401Ala
NM_000083.3:c.1652G>C MANE Select	NP_000074.3:p.Gly551Ala
NR_046453.2:n.1607G>C