Canonical Allele Identifier: CA369645623

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143036631A>C (hg19) ; chr7:g.143339538A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143339538A>C , CM000669.2:g.143339538A>C	GRCh38
NC_000007.13:g.143036631A>C , CM000669.1:g.143036631A>C	GRCh37
NC_000007.12:g.142746753A>C	NCBI36
NG_009815.1:g.28413A>C
NG_009815.2:g.28413A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.1499A>C	ENSP00000498052.2:p.Glu500Ala
ENST00000343257.7:c.1499A>C MANE Select	ENSP00000339867.2:p.Glu500Ala
ENST00000432192.6:c.1323A>C
ENST00000343257.6:c.1499A>C	ENSP00000339867.2:p.Glu500Ala
NM_000083.2:c.1499A>C	NP_000074.2:p.Glu500Ala
NR_046453.1:n.1439A>C
XM_011515781.1:c.1523A>C	XP_011514083.1:p.Glu508Ala
XM_011515782.1:c.245A>C	XP_011514084.1:p.Glu82Ala
XM_011515782.2:c.245A>C	XP_011514084.1:p.Glu82Ala
XM_017011739.1:c.1073A>C	XP_016867228.1:p.Glu358Ala
XM_017011740.1:c.1049A>C	XP_016867229.1:p.Glu350Ala
NM_000083.3:c.1499A>C MANE Select	NP_000074.3:p.Glu500Ala
NR_046453.2:n.1454A>C