Canonical Allele Identifier: CA369686033

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 2922385
• ClinVar RCV Id: RCV003785599
• MyVariant Identifiers: chr7:g.143018938A>C (hg19) ; chr7:g.143321845A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321845A>C , CM000669.2:g.143321845A>C	GRCh38
NC_000007.13:g.143018938A>C , CM000669.1:g.143018938A>C	GRCh37
NC_000007.12:g.142729060A>C	NCBI36
NG_009815.1:g.10720A>C
NG_009815.2:g.10720A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.693A>C	ENSP00000498052.2:p.Lys231Asn
ENST00000343257.7:c.693A>C MANE Select	ENSP00000339867.2:p.Lys231Asn
ENST00000432192.6:c.461A>C
ENST00000455478.6:c.147A>C	ENSP00000400027.2:p.Lys49Asn
ENST00000650516.1:c.693A>C	ENSP00000498052.1:p.Lys231Asn
ENST00000343257.6:c.693A>C	ENSP00000339867.2:p.Lys231Asn
ENST00000432192.5:c.151A>C
ENST00000455478.5:c.151A>C
ENST00000495612.1:n.151A>C
NM_000083.2:c.693A>C	NP_000074.2:p.Lys231Asn
NR_046453.1:n.780A>C
XM_011515781.1:c.693A>C	XP_011514083.1:p.Lys231Asn
XM_017011739.1:c.400A>C	XP_016867228.1:p.Arg134=
XM_017011740.1:c.400A>C	XP_016867229.1:p.Arg134=
NM_000083.3:c.693A>C MANE Select	NP_000074.3:p.Lys231Asn
NR_046453.2:n.795A>C