Canonical Allele Identifier: CA4537443

Gene: CLCN1

Linked Data

• dbSNP Id: rs749100260
• ExAC: 7:143039084 T / G
• gnomAD v2: 7-143039084-T-G
• MyVariant Identifiers: chr7:g.143039084T>G (hg19) ; chr7:g.143341991T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143341991T>G , CM000669.2:g.143341991T>G	GRCh38
NC_000007.13:g.143039084T>G , CM000669.1:g.143039084T>G	GRCh37
NC_000007.12:g.142749206T>G	NCBI36
NG_009815.1:g.30866T>G
NG_009815.2:g.30866T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1645T>G	ENSP00000498052.2:p.Leu549Val
ENST00000343257.7:c.1645T>G MANE Select	ENSP00000339867.2:p.Leu549Val
ENST00000432192.6:c.1469T>G
ENST00000343257.6:c.1645T>G	ENSP00000339867.2:p.Leu549Val
NM_000083.2:c.1645T>G	NP_000074.2:p.Leu549Val
NR_046453.1:n.1585T>G
XM_011515781.1:c.1669T>G	XP_011514083.1:p.Leu557Val
XM_011515782.1:c.391T>G	XP_011514084.1:p.Leu131Val
XM_011515782.2:c.391T>G	XP_011514084.1:p.Leu131Val
XM_017011739.1:c.1219T>G	XP_016867228.1:p.Leu407Val
XM_017011740.1:c.1195T>G	XP_016867229.1:p.Leu399Val
NM_000083.3:c.1645T>G MANE Select	NP_000074.3:p.Leu549Val
NR_046453.2:n.1600T>G