Canonical Allele Identifier: CA369654354

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 1807048
• ClinVar RCV Id: RCV002474477
• MyVariant Identifiers: chr7:g.143049050A>C (hg19) ; chr7:g.143351957A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351957A>C , CM000669.2:g.143351957A>C	GRCh38
NC_000007.13:g.143049050A>C , CM000669.1:g.143049050A>C	GRCh37
NC_000007.12:g.142759172A>C	NCBI36
NG_009815.1:g.40832A>C
NG_009815.2:g.40832A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2959A>C	ENSP00000498052.2:p.Ile987Leu
ENST00000343257.7:c.2959A>C MANE Select	ENSP00000339867.2:p.Ile987Leu
ENST00000343257.6:c.2959A>C	ENSP00000339867.2:p.Ile987Leu
NM_000083.2:c.2959A>C	NP_000074.2:p.Ile987Leu
NR_046453.1:n.2899A>C
XM_011515781.1:c.2983A>C	XP_011514083.1:p.Ile995Leu
XM_011515782.1:c.1705A>C	XP_011514084.1:p.Ile569Leu
XM_011515782.2:c.1705A>C	XP_011514084.1:p.Ile569Leu
XM_017011739.1:c.2533A>C	XP_016867228.1:p.Ile845Leu
XM_017011740.1:c.2509A>C	XP_016867229.1:p.Ile837Leu
NM_000083.3:c.2959A>C MANE Select	NP_000074.3:p.Ile987Leu
NR_046453.2:n.2914A>C