Canonical Allele Identifier: CA369653517

Gene: CLCN1

Linked Data

• dbSNP Id: rs1251053995
• gnomAD v2: 7-143048730-T-C
• gnomAD v4: 7-143351637-T-C
• MyVariant Identifiers: chr7:g.143048730T>C (hg19) ; chr7:g.143351637T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351637T>C , CM000669.2:g.143351637T>C	GRCh38
NC_000007.13:g.143048730T>C , CM000669.1:g.143048730T>C	GRCh37
NC_000007.12:g.142758852T>C	NCBI36
NG_009815.1:g.40512T>C
NG_009815.2:g.40512T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.2639T>C	ENSP00000498052.2:p.Leu880Pro
ENST00000343257.7:c.2639T>C MANE Select	ENSP00000339867.2:p.Leu880Pro
ENST00000432192.6:c.2463T>C
ENST00000343257.6:c.2639T>C	ENSP00000339867.2:p.Leu880Pro
NM_000083.2:c.2639T>C	NP_000074.2:p.Leu880Pro
NR_046453.1:n.2579T>C
XM_011515781.1:c.2663T>C	XP_011514083.1:p.Leu888Pro
XM_011515782.1:c.1385T>C	XP_011514084.1:p.Leu462Pro
XM_011515782.2:c.1385T>C	XP_011514084.1:p.Leu462Pro
XM_017011739.1:c.2213T>C	XP_016867228.1:p.Leu738Pro
XM_017011740.1:c.2189T>C	XP_016867229.1:p.Leu730Pro
NM_000083.3:c.2639T>C MANE Select	NP_000074.3:p.Leu880Pro
NR_046453.2:n.2594T>C