Canonical Allele Identifier: CA834512195

Gene: CLCN1

Linked Data

• dbSNP Id: rs1448049261
• gnomAD v4: 7-143331019-G-C
• MyVariant Identifiers: chr7:g.143028112G>C (hg19) ; chr7:g.143331019G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143331019G>C , CM000669.2:g.143331019G>C	GRCh38
NC_000007.13:g.143028112G>C , CM000669.1:g.143028112G>C	GRCh37
NC_000007.12:g.142738234G>C	NCBI36
NG_009815.1:g.19894G>C
NG_009815.2:g.19894G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.979+122G>C	ENSP00000498052.2:n.979+122G>C
ENST00000343257.7:c.979+122G>C MANE Select	ENSP00000339867.2:n.979+122G>C
ENST00000432192.6:c.803+122G>C
ENST00000343257.6:c.979+122G>C	ENSP00000339867.2:n.979+122G>C
NM_000083.2:c.979+122G>C	NP_000074.2:n.979+122G>C
NR_046453.1:n.1069+122G>C
XM_011515781.1:c.979+122G>C	XP_011514083.1:n.979+122G>C
XM_017011739.1:c.529+122G>C	XP_016867228.1:n.529+122G>C
XM_017011740.1:c.529+122G>C	XP_016867229.1:n.529+122G>C
NM_000083.3:c.979+122G>C MANE Select	NP_000074.3:n.979+122G>C
NR_046453.2:n.1084+122G>C