Canonical Allele Identifier: CA369684299

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 2924214
• ClinVar RCV Id: RCV003785964
• dbSNP Id: rs1802442027
• MyVariant Identifiers: chr7:g.143018823A>C (hg19) ; chr7:g.143321730A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321730A>C , CM000669.2:g.143321730A>C	GRCh38
NC_000007.13:g.143018823A>C , CM000669.1:g.143018823A>C	GRCh37
NC_000007.12:g.142728945A>C	NCBI36
NG_009815.1:g.10605A>C
NG_009815.2:g.10605A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.578A>C	ENSP00000498052.2:p.Glu193Ala
ENST00000343257.7:c.578A>C MANE Select	ENSP00000339867.2:p.Glu193Ala
ENST00000432192.6:c.346A>C
ENST00000455478.6:c.32A>C	ENSP00000400027.2:p.Glu11Ala
ENST00000650516.1:c.578A>C	ENSP00000498052.1:p.Glu193Ala
ENST00000343257.6:c.578A>C	ENSP00000339867.2:p.Glu193Ala
ENST00000432192.5:c.36A>C
ENST00000455478.5:c.36A>C
ENST00000495612.1:n.36A>C
NM_000083.2:c.578A>C	NP_000074.2:p.Glu193Ala
NR_046453.1:n.665A>C
XM_011515781.1:c.578A>C	XP_011514083.1:p.Glu193Ala
XM_017011739.1:c.285A>C	XP_016867228.1:p.Arg95=
XM_017011740.1:c.285A>C	XP_016867229.1:p.Arg95=
NM_000083.3:c.578A>C MANE Select	NP_000074.3:p.Glu193Ala
NR_046453.2:n.680A>C