Canonical Allele Identifier: CA578446151

Gene: CLCN1

Linked Data

• dbSNP Id: rs1242799119
• gnomAD v2: 7-143047607-G-T
• gnomAD v4: 7-143350514-G-T
• MyVariant Identifiers: chr7:g.143047607G>T (hg19) ; chr7:g.143350514G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143350514G>T , CM000669.2:g.143350514G>T	GRCh38
NC_000007.13:g.143047607G>T , CM000669.1:g.143047607G>T	GRCh37
NC_000007.12:g.142757729G>T	NCBI36
NG_009815.1:g.39389G>T
NG_009815.2:g.39389G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2508+38G>T	ENSP00000498052.2:n.2508+38G>T
ENST00000343257.7:c.2508+38G>T MANE Select	ENSP00000339867.2:n.2508+38G>T
ENST00000432192.6:c.2332+38G>T
ENST00000343257.6:c.2508+38G>T	ENSP00000339867.2:n.2508+38G>T
NM_000083.2:c.2508+38G>T	NP_000074.2:n.2508+38G>T
NR_046453.1:n.2448+38G>T
XM_011515781.1:c.2532+38G>T	XP_011514083.1:n.2532+38G>T
XM_011515782.1:c.1254+38G>T	XP_011514084.1:n.1254+38G>T
XM_011515782.2:c.1254+38G>T	XP_011514084.1:n.1254+38G>T
XM_017011739.1:c.2082+38G>T	XP_016867228.1:n.2082+38G>T
XM_017011740.1:c.2058+38G>T	XP_016867229.1:n.2058+38G>T
NM_000083.3:c.2508+38G>T MANE Select	NP_000074.3:n.2508+38G>T
NR_046453.2:n.2463+38G>T