Canonical Allele Identifier: CA2685383663

Gene: CLCN1

Linked Data

• gnomAD v4: 7-143352063-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143352063C>T , CM000669.2:g.143352063C>T	GRCh38
NC_000007.13:g.143049156C>T , CM000669.1:g.143049156C>T	GRCh37
NC_000007.12:g.142759278C>T	NCBI36
NG_009815.1:g.40938C>T
NG_009815.2:g.40938C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.*98C>T	ENSP00000498052.2:n.*98C>T
ENST00000343257.7:c.*98C>T MANE Select	ENSP00000339867.2:n.*98C>T
ENST00000343257.6:c.*98C>T	ENSP00000339867.2:n.*98C>T
XM_011515781.1:c.*98C>T	XP_011514083.1:n.*98C>T
XM_011515782.1:c.*98C>T	XP_011514084.1:n.*98C>T
NM_000083.3:c.*98C>T MANE Select	NP_000074.3:n.*98C>T
NR_046453.2:n.3020C>T