Canonical Allele Identifier: CA369646399

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 2584978
• ClinVar RCV Id: RCV003340878
• MyVariant Identifiers: chr7:g.143039052A>C (hg19) ; chr7:g.143341959A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143341959A>C , CM000669.2:g.143341959A>C	GRCh38
NC_000007.13:g.143039052A>C , CM000669.1:g.143039052A>C	GRCh37
NC_000007.12:g.142749174A>C	NCBI36
NG_009815.1:g.30834A>C
NG_009815.2:g.30834A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1613A>C	ENSP00000498052.2:p.His538Pro
ENST00000343257.7:c.1613A>C MANE Select	ENSP00000339867.2:p.His538Pro
ENST00000432192.6:c.1437A>C
ENST00000343257.6:c.1613A>C	ENSP00000339867.2:p.His538Pro
NM_000083.2:c.1613A>C	NP_000074.2:p.His538Pro
NR_046453.1:n.1553A>C
XM_011515781.1:c.1637A>C	XP_011514083.1:p.His546Pro
XM_011515782.1:c.359A>C	XP_011514084.1:p.His120Pro
XM_011515782.2:c.359A>C	XP_011514084.1:p.His120Pro
XM_017011739.1:c.1187A>C	XP_016867228.1:p.His396Pro
XM_017011740.1:c.1163A>C	XP_016867229.1:p.His388Pro
NM_000083.3:c.1613A>C MANE Select	NP_000074.3:p.His538Pro
NR_046453.2:n.1568A>C