Canonical Allele Identifier: CA369653628

Gene: CLCN1

Linked Data

• dbSNP Id: rs1250710576
• gnomAD v2: 7-143048787-C-T
• gnomAD v4: 7-143351694-C-T
• MyVariant Identifiers: chr7:g.143048787C>T (hg19) ; chr7:g.143351694C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351694C>T , CM000669.2:g.143351694C>T	GRCh38
NC_000007.13:g.143048787C>T , CM000669.1:g.143048787C>T	GRCh37
NC_000007.12:g.142758909C>T	NCBI36
NG_009815.1:g.40569C>T
NG_009815.2:g.40569C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2696C>T	ENSP00000498052.2:p.Ala899Val
ENST00000343257.7:c.2696C>T MANE Select	ENSP00000339867.2:p.Ala899Val
ENST00000432192.6:c.2520C>T
ENST00000343257.6:c.2696C>T	ENSP00000339867.2:p.Ala899Val
NM_000083.2:c.2696C>T	NP_000074.2:p.Ala899Val
NR_046453.1:n.2636C>T
XM_011515781.1:c.2720C>T	XP_011514083.1:p.Ala907Val
XM_011515782.1:c.1442C>T	XP_011514084.1:p.Ala481Val
XM_011515782.2:c.1442C>T	XP_011514084.1:p.Ala481Val
XM_017011739.1:c.2270C>T	XP_016867228.1:p.Ala757Val
XM_017011740.1:c.2246C>T	XP_016867229.1:p.Ala749Val
NM_000083.3:c.2696C>T MANE Select	NP_000074.3:p.Ala899Val
NR_046453.2:n.2651C>T