Canonical Allele Identifier: CA369646407

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143039055C>A (hg19) ; chr7:g.143341962C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143341962C>A , CM000669.2:g.143341962C>A	GRCh38
NC_000007.13:g.143039055C>A , CM000669.1:g.143039055C>A	GRCh37
NC_000007.12:g.142749177C>A	NCBI36
NG_009815.1:g.30837C>A
NG_009815.2:g.30837C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1616C>A	ENSP00000498052.2:p.Thr539Lys
ENST00000343257.7:c.1616C>A MANE Select	ENSP00000339867.2:p.Thr539Lys
ENST00000432192.6:c.1440C>A
ENST00000343257.6:c.1616C>A	ENSP00000339867.2:p.Thr539Lys
NM_000083.2:c.1616C>A	NP_000074.2:p.Thr539Lys
NR_046453.1:n.1556C>A
XM_011515781.1:c.1640C>A	XP_011514083.1:p.Thr547Lys
XM_011515782.1:c.362C>A	XP_011514084.1:p.Thr121Lys
XM_011515782.2:c.362C>A	XP_011514084.1:p.Thr121Lys
XM_017011739.1:c.1190C>A	XP_016867228.1:p.Thr397Lys
XM_017011740.1:c.1166C>A	XP_016867229.1:p.Thr389Lys
NM_000083.3:c.1616C>A MANE Select	NP_000074.3:p.Thr539Lys
NR_046453.2:n.1571C>A