Canonical Allele Identifier: CA4537406

Gene: CLCN1

Linked Data

• dbSNP Id: rs775315676
• ExAC: 7:143036623 G / A
• MyVariant Identifiers: chr7:g.143036623G>A (hg19) ; chr7:g.143339530G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143339530G>A , CM000669.2:g.143339530G>A	GRCh38
NC_000007.13:g.143036623G>A , CM000669.1:g.143036623G>A	GRCh37
NC_000007.12:g.142746745G>A	NCBI36
NG_009815.1:g.28405G>A
NG_009815.2:g.28405G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.1491G>A	ENSP00000498052.2:p.Leu497=
ENST00000343257.7:c.1491G>A MANE Select	ENSP00000339867.2:p.Leu497=
ENST00000432192.6:c.1315G>A
ENST00000343257.6:c.1491G>A	ENSP00000339867.2:p.Leu497=
NM_000083.2:c.1491G>A	NP_000074.2:p.Leu497=
NR_046453.1:n.1431G>A
XM_011515781.1:c.1515G>A	XP_011514083.1:p.Leu505=
XM_011515782.1:c.237G>A	XP_011514084.1:p.Leu79=
XM_011515782.2:c.237G>A	XP_011514084.1:p.Leu79=
XM_017011739.1:c.1065G>A	XP_016867228.1:p.Leu355=
XM_017011740.1:c.1041G>A	XP_016867229.1:p.Leu347=
NM_000083.3:c.1491G>A MANE Select	NP_000074.3:p.Leu497=
NR_046453.2:n.1446G>A