Canonical Allele Identifier: CA369654365

Gene: CLCN1

Linked Data

• gnomAD v4: 7-143351960-C-T
• MyVariant Identifiers: chr7:g.143049053C>T (hg19) ; chr7:g.143351960C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351960C>T , CM000669.2:g.143351960C>T	GRCh38
NC_000007.13:g.143049053C>T , CM000669.1:g.143049053C>T	GRCh37
NC_000007.12:g.142759175C>T	NCBI36
NG_009815.1:g.40835C>T
NG_009815.2:g.40835C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2962C>T	ENSP00000498052.2:p.Leu988Phe
ENST00000343257.7:c.2962C>T MANE Select	ENSP00000339867.2:p.Leu988Phe
ENST00000343257.6:c.2962C>T	ENSP00000339867.2:p.Leu988Phe
NM_000083.2:c.2962C>T	NP_000074.2:p.Leu988Phe
NR_046453.1:n.2902C>T
XM_011515781.1:c.2986C>T	XP_011514083.1:p.Leu996Phe
XM_011515782.1:c.1708C>T	XP_011514084.1:p.Leu570Phe
XM_011515782.2:c.1708C>T	XP_011514084.1:p.Leu570Phe
XM_017011739.1:c.2536C>T	XP_016867228.1:p.Leu846Phe
XM_017011740.1:c.2512C>T	XP_016867229.1:p.Leu838Phe
NM_000083.3:c.2962C>T MANE Select	NP_000074.3:p.Leu988Phe
NR_046453.2:n.2917C>T