Canonical Allele Identifier: CA369683781

Gene: CLCN1

Linked Data

• dbSNP Id: rs1802429655
• gnomAD v4: 7-143321442-C-T
• MyVariant Identifiers: chr7:g.143018535C>T (hg19) ; chr7:g.143321442C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321442C>T , CM000669.2:g.143321442C>T	GRCh38
NC_000007.13:g.143018535C>T , CM000669.1:g.143018535C>T	GRCh37
NC_000007.12:g.142728657C>T	NCBI36
NG_009815.1:g.10317C>T
NG_009815.2:g.10317C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.511C>T	ENSP00000498052.2:p.Leu171Phe
ENST00000343257.7:c.511C>T MANE Select	ENSP00000339867.2:p.Leu171Phe
ENST00000432192.6:c.279C>T
ENST00000650516.1:c.511C>T	ENSP00000498052.1:p.Leu171Phe
ENST00000343257.6:c.511C>T	ENSP00000339867.2:p.Leu171Phe
NM_000083.2:c.511C>T	NP_000074.2:p.Leu171Phe
NR_046453.1:n.598C>T
XM_011515781.1:c.511C>T	XP_011514083.1:p.Leu171Phe
XM_017011739.1:c.218C>T	XP_016867228.1:p.Pro73Leu
XM_017011740.1:c.218C>T	XP_016867229.1:p.Pro73Leu
NM_000083.3:c.511C>T MANE Select	NP_000074.3:p.Leu171Phe
NR_046453.2:n.613C>T