Canonical Allele Identifier: CA578445416

Gene: CLCN1

Linked Data

• dbSNP Id: rs1256590551
• gnomAD v2: 7-143028247-C-T
• gnomAD v3: 7-143331154-C-T
• gnomAD v4: 7-143331154-C-T
• MyVariant Identifiers: chr7:g.143028247C>T (hg19) ; chr7:g.143331154C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143331154C>T , CM000669.2:g.143331154C>T	GRCh38
NC_000007.13:g.143028247C>T , CM000669.1:g.143028247C>T	GRCh37
NC_000007.12:g.142738369C>T	NCBI36
NG_009815.1:g.20029C>T
NG_009815.2:g.20029C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.980-78C>T	ENSP00000498052.2:n.980-78C>T
ENST00000343257.7:c.980-78C>T MANE Select	ENSP00000339867.2:n.980-78C>T
ENST00000432192.6:c.804-78C>T
ENST00000343257.6:c.980-78C>T	ENSP00000339867.2:n.980-78C>T
NM_000083.2:c.980-78C>T	NP_000074.2:n.980-78C>T
NR_046453.1:n.1070-78C>T
XM_011515781.1:c.980-78C>T	XP_011514083.1:n.980-78C>T
XM_017011739.1:c.530-78C>T	XP_016867228.1:n.530-78C>T
XM_017011740.1:c.530-78C>T	XP_016867229.1:n.530-78C>T
NM_000083.3:c.980-78C>T MANE Select	NP_000074.3:n.980-78C>T
NR_046453.2:n.1085-78C>T