Canonical Allele Identifier: CA369646742

Gene: CLCN1

Linked Data

• dbSNP Id: rs1803095576
• gnomAD v3: 7-143342116-G-C
• gnomAD v4: 7-143342116-G-C
• MyVariant Identifiers: chr7:g.143039209G>C (hg19) ; chr7:g.143342116G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143342116G>C , CM000669.2:g.143342116G>C	GRCh38
NC_000007.13:g.143039209G>C , CM000669.1:g.143039209G>C	GRCh37
NC_000007.12:g.142749331G>C	NCBI36
NG_009815.1:g.30991G>C
NG_009815.2:g.30991G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1770G>C	ENSP00000498052.2:p.Leu590Phe
ENST00000343257.7:c.1770G>C MANE Select	ENSP00000339867.2:p.Leu590Phe
ENST00000432192.6:c.1594G>C
ENST00000343257.6:c.1770G>C	ENSP00000339867.2:p.Leu590Phe
NM_000083.2:c.1770G>C	NP_000074.2:p.Leu590Phe
NR_046453.1:n.1710G>C
XM_011515781.1:c.1794G>C	XP_011514083.1:p.Leu598Phe
XM_011515782.1:c.516G>C	XP_011514084.1:p.Leu172Phe
XM_011515782.2:c.516G>C	XP_011514084.1:p.Leu172Phe
XM_017011739.1:c.1344G>C	XP_016867228.1:p.Leu448Phe
XM_017011740.1:c.1320G>C	XP_016867229.1:p.Leu440Phe
NM_000083.3:c.1770G>C MANE Select	NP_000074.3:p.Leu590Phe
NR_046453.2:n.1725G>C