Canonical Allele Identifier: CA369653695

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143048820C>A (hg19) ; chr7:g.143351727C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351727C>A , CM000669.2:g.143351727C>A	GRCh38
NC_000007.13:g.143048820C>A , CM000669.1:g.143048820C>A	GRCh37
NC_000007.12:g.142758942C>A	NCBI36
NG_009815.1:g.40602C>A
NG_009815.2:g.40602C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2729C>A	ENSP00000498052.2:p.Pro910His
ENST00000343257.7:c.2729C>A MANE Select	ENSP00000339867.2:p.Pro910His
ENST00000432192.6:c.2553C>A
ENST00000343257.6:c.2729C>A	ENSP00000339867.2:p.Pro910His
NM_000083.2:c.2729C>A	NP_000074.2:p.Pro910His
NR_046453.1:n.2669C>A
XM_011515781.1:c.2753C>A	XP_011514083.1:p.Pro918His
XM_011515782.1:c.1475C>A	XP_011514084.1:p.Pro492His
XM_011515782.2:c.1475C>A	XP_011514084.1:p.Pro492His
XM_017011739.1:c.2303C>A	XP_016867228.1:p.Pro768His
XM_017011740.1:c.2279C>A	XP_016867229.1:p.Pro760His
NM_000083.3:c.2729C>A MANE Select	NP_000074.3:p.Pro910His
NR_046453.2:n.2684C>A