Canonical Allele Identifier: CA458283319

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143039084T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143341991T>C , CM000669.2:g.143341991T>C	GRCh38
NC_000007.13:g.143039084T>C , CM000669.1:g.143039084T>C	GRCh37
NC_000007.12:g.142749206T>C	NCBI36
NG_009815.1:g.30866T>C
NG_009815.2:g.30866T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1645T>C	ENSP00000498052.2:p.Leu549=
ENST00000343257.7:c.1645T>C MANE Select	ENSP00000339867.2:p.Leu549=
ENST00000432192.6:c.1469T>C
ENST00000343257.6:c.1645T>C	ENSP00000339867.2:p.Leu549=
NM_000083.2:c.1645T>C	NP_000074.2:p.Leu549=
NR_046453.1:n.1585T>C
XM_011515781.1:c.1669T>C	XP_011514083.1:p.Leu557=
XM_011515782.1:c.391T>C	XP_011514084.1:p.Leu131=
XM_011515782.2:c.391T>C	XP_011514084.1:p.Leu131=
XM_017011739.1:c.1219T>C	XP_016867228.1:p.Leu407=
XM_017011740.1:c.1195T>C	XP_016867229.1:p.Leu399=
NM_000083.3:c.1645T>C MANE Select	NP_000074.3:p.Leu549=
NR_046453.2:n.1600T>C