Canonical Allele Identifier: CA369646602

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143039145T>C (hg19) ; chr7:g.143342052T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143342052T>C , CM000669.2:g.143342052T>C	GRCh38
NC_000007.13:g.143039145T>C , CM000669.1:g.143039145T>C	GRCh37
NC_000007.12:g.142749267T>C	NCBI36
NG_009815.1:g.30927T>C
NG_009815.2:g.30927T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1706T>C	ENSP00000498052.2:p.Val569Ala
ENST00000343257.7:c.1706T>C MANE Select	ENSP00000339867.2:p.Val569Ala
ENST00000432192.6:c.1530T>C
ENST00000343257.6:c.1706T>C	ENSP00000339867.2:p.Val569Ala
NM_000083.2:c.1706T>C	NP_000074.2:p.Val569Ala
NR_046453.1:n.1646T>C
XM_011515781.1:c.1730T>C	XP_011514083.1:p.Val577Ala
XM_011515782.1:c.452T>C	XP_011514084.1:p.Val151Ala
XM_011515782.2:c.452T>C	XP_011514084.1:p.Val151Ala
XM_017011739.1:c.1280T>C	XP_016867228.1:p.Val427Ala
XM_017011740.1:c.1256T>C	XP_016867229.1:p.Val419Ala
NM_000083.3:c.1706T>C MANE Select	NP_000074.3:p.Val569Ala
NR_046453.2:n.1661T>C