Canonical Allele Identifier: CA369684483

Gene: CLCN1

Linked Data

• dbSNP Id: rs1428984473
• gnomAD v2: 7-143018850-T-C
• gnomAD v4: 7-143321757-T-C
• MyVariant Identifiers: chr7:g.143018850T>C (hg19) ; chr7:g.143321757T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321757T>C , CM000669.2:g.143321757T>C	GRCh38
NC_000007.13:g.143018850T>C , CM000669.1:g.143018850T>C	GRCh37
NC_000007.12:g.142728972T>C	NCBI36
NG_009815.1:g.10632T>C
NG_009815.2:g.10632T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.605T>C	ENSP00000498052.2:p.Val202Ala
ENST00000343257.7:c.605T>C MANE Select	ENSP00000339867.2:p.Val202Ala
ENST00000432192.6:c.373T>C
ENST00000455478.6:c.59T>C	ENSP00000400027.2:p.Val20Ala
ENST00000650516.1:c.605T>C	ENSP00000498052.1:p.Val202Ala
ENST00000343257.6:c.605T>C	ENSP00000339867.2:p.Val202Ala
ENST00000432192.5:c.63T>C
ENST00000455478.5:c.63T>C
ENST00000495612.1:n.63T>C
NM_000083.2:c.605T>C	NP_000074.2:p.Val202Ala
NR_046453.1:n.692T>C
XM_011515781.1:c.605T>C	XP_011514083.1:p.Val202Ala
XM_017011739.1:c.312T>C	XP_016867228.1:p.Cys104=
XM_017011740.1:c.312T>C	XP_016867229.1:p.Cys104=
NM_000083.3:c.605T>C MANE Select	NP_000074.3:p.Val202Ala
NR_046453.2:n.707T>C