Canonical Allele Identifier: CA369646497

Gene: CLCN1

Linked Data

• dbSNP Id: rs1332302928
• gnomAD v2: 7-143039097-T-C
• gnomAD v4: 7-143342004-T-C
• MyVariant Identifiers: chr7:g.143039097T>C (hg19) ; chr7:g.143342004T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143342004T>C , CM000669.2:g.143342004T>C	GRCh38
NC_000007.13:g.143039097T>C , CM000669.1:g.143039097T>C	GRCh37
NC_000007.12:g.142749219T>C	NCBI36
NG_009815.1:g.30879T>C
NG_009815.2:g.30879T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1658T>C	ENSP00000498052.2:p.Ile553Thr
ENST00000343257.7:c.1658T>C MANE Select	ENSP00000339867.2:p.Ile553Thr
ENST00000432192.6:c.1482T>C
ENST00000343257.6:c.1658T>C	ENSP00000339867.2:p.Ile553Thr
NM_000083.2:c.1658T>C	NP_000074.2:p.Ile553Thr
NR_046453.1:n.1598T>C
XM_011515781.1:c.1682T>C	XP_011514083.1:p.Ile561Thr
XM_011515782.1:c.404T>C	XP_011514084.1:p.Ile135Thr
XM_011515782.2:c.404T>C	XP_011514084.1:p.Ile135Thr
XM_017011739.1:c.1232T>C	XP_016867228.1:p.Ile411Thr
XM_017011740.1:c.1208T>C	XP_016867229.1:p.Ile403Thr
NM_000083.3:c.1658T>C MANE Select	NP_000074.3:p.Ile553Thr
NR_046453.2:n.1613T>C