Canonical Allele Identifier: CA369644397

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143029959T>A (hg19) ; chr7:g.143332866T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143332866T>A , CM000669.2:g.143332866T>A	GRCh38
NC_000007.13:g.143029959T>A , CM000669.1:g.143029959T>A	GRCh37
NC_000007.12:g.142740081T>A	NCBI36
NG_009815.1:g.21741T>A
NG_009815.2:g.21741T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.1394T>A	ENSP00000498052.2:p.Val465Asp
ENST00000343257.7:c.1394T>A MANE Select	ENSP00000339867.2:p.Val465Asp
ENST00000432192.6:c.1218T>A
ENST00000343257.6:c.1394T>A	ENSP00000339867.2:p.Val465Asp
NM_000083.2:c.1394T>A	NP_000074.2:p.Val465Asp
NR_046453.1:n.1341+363T>A
XM_011515781.1:c.1418T>A	XP_011514083.1:p.Val473Asp
XM_011515782.1:c.140T>A	XP_011514084.1:p.Val47Asp
XM_011515782.2:c.140T>A	XP_011514084.1:p.Val47Asp
XM_017011739.1:c.968T>A	XP_016867228.1:p.Val323Asp
XM_017011740.1:c.944T>A	XP_016867229.1:p.Val315Asp
NM_000083.3:c.1394T>A MANE Select	NP_000074.3:p.Val465Asp
NR_046453.2:n.1356+363T>A