Canonical Allele Identifier: CA369684441

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 2173119
• ClinVar RCV Id: RCV002598559 ; RCV003143495
• gnomAD v4: 7-143321748-G-C
• MyVariant Identifiers: chr7:g.143018841G>C (hg19) ; chr7:g.143321748G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321748G>C , CM000669.2:g.143321748G>C	GRCh38
NC_000007.13:g.143018841G>C , CM000669.1:g.143018841G>C	GRCh37
NC_000007.12:g.142728963G>C	NCBI36
NG_009815.1:g.10623G>C
NG_009815.2:g.10623G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.596G>C	ENSP00000498052.2:p.Arg199Pro
ENST00000343257.7:c.596G>C MANE Select	ENSP00000339867.2:p.Arg199Pro
ENST00000432192.6:c.364G>C
ENST00000455478.6:c.50G>C	ENSP00000400027.2:p.Arg17Pro
ENST00000650516.1:c.596G>C	ENSP00000498052.1:p.Arg199Pro
ENST00000343257.6:c.596G>C	ENSP00000339867.2:p.Arg199Pro
ENST00000432192.5:c.54G>C
ENST00000455478.5:c.54G>C
ENST00000495612.1:n.54G>C
NM_000083.2:c.596G>C	NP_000074.2:p.Arg199Pro
NR_046453.1:n.683G>C
XM_011515781.1:c.596G>C	XP_011514083.1:p.Arg199Pro
XM_017011739.1:c.303G>C	XP_016867228.1:p.Ser101=
XM_017011740.1:c.303G>C	XP_016867229.1:p.Ser101=
NM_000083.3:c.596G>C MANE Select	NP_000074.3:p.Arg199Pro
NR_046453.2:n.698G>C