Canonical Allele Identifier: CA4537827

Gene: CLCN1

Linked Data

• dbSNP Id: rs779600728
• ExAC: 7:143049076 C / T
• gnomAD v2: 7-143049076-C-T
• gnomAD v4: 7-143351983-C-T
• MyVariant Identifiers: chr7:g.143049076C>T (hg19) ; chr7:g.143351983C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351983C>T , CM000669.2:g.143351983C>T	GRCh38
NC_000007.13:g.143049076C>T , CM000669.1:g.143049076C>T	GRCh37
NC_000007.12:g.142759198C>T	NCBI36
NG_009815.1:g.40858C>T
NG_009815.2:g.40858C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.*18C>T	ENSP00000498052.2:n.*18C>T
ENST00000343257.7:c.*18C>T MANE Select	ENSP00000339867.2:n.*18C>T
ENST00000343257.6:c.*18C>T	ENSP00000339867.2:n.*18C>T
NM_000083.2:c.*18C>T	NP_000074.2:n.*18C>T
NR_046453.1:n.2925C>T
XM_011515781.1:c.*18C>T	XP_011514083.1:n.*18C>T
XM_011515782.1:c.*18C>T	XP_011514084.1:n.*18C>T
XM_011515782.2:c.*18C>T	XP_011514084.1:n.*18C>T
XM_017011739.1:c.*18C>T	XP_016867228.1:n.*18C>T
XM_017011740.1:c.*18C>T	XP_016867229.1:n.*18C>T
NM_000083.3:c.*18C>T MANE Select	NP_000074.3:n.*18C>T
NR_046453.2:n.2940C>T