Canonical Allele Identifier: CA369683373

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 2927187
• ClinVar RCV Id: RCV003781377
• MyVariant Identifiers: chr7:g.143018474C>A (hg19) ; chr7:g.143321381C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321381C>A , CM000669.2:g.143321381C>A	GRCh38
NC_000007.13:g.143018474C>A , CM000669.1:g.143018474C>A	GRCh37
NC_000007.12:g.142728596C>A	NCBI36
NG_009815.1:g.10256C>A
NG_009815.2:g.10256C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.450C>A	ENSP00000498052.2:p.Tyr150Ter
ENST00000343257.7:c.450C>A MANE Select	ENSP00000339867.2:p.Tyr150Ter
ENST00000432192.6:c.218C>A
ENST00000650516.1:c.450C>A	ENSP00000498052.1:p.Tyr150Ter
ENST00000343257.6:c.450C>A	ENSP00000339867.2:p.Tyr150Ter
NM_000083.2:c.450C>A	NP_000074.2:p.Tyr150Ter
NR_046453.1:n.537C>A
XM_011515781.1:c.450C>A	XP_011514083.1:p.Tyr150Ter
XM_017011739.1:c.157C>A	XP_016867228.1:p.Arg53Ser
XM_017011740.1:c.157C>A	XP_016867229.1:p.Arg53Ser
NM_000083.3:c.450C>A MANE Select	NP_000074.3:p.Tyr150Ter
NR_046453.2:n.552C>A