Canonical Allele Identifier: CA369646775

Gene: CLCN1

Linked Data

• dbSNP Id: rs1023118080
• gnomAD v2: 7-143039222-T-C
• gnomAD v4: 7-143342129-T-C
• MyVariant Identifiers: chr7:g.143039222T>C (hg19) ; chr7:g.143342129T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143342129T>C , CM000669.2:g.143342129T>C	GRCh38
NC_000007.13:g.143039222T>C , CM000669.1:g.143039222T>C	GRCh37
NC_000007.12:g.142749344T>C	NCBI36
NG_009815.1:g.31004T>C
NG_009815.2:g.31004T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1783T>C	ENSP00000498052.2:p.Trp595Arg
ENST00000343257.7:c.1783T>C MANE Select	ENSP00000339867.2:p.Trp595Arg
ENST00000432192.6:c.1607T>C
ENST00000343257.6:c.1783T>C	ENSP00000339867.2:p.Trp595Arg
NM_000083.2:c.1783T>C	NP_000074.2:p.Trp595Arg
NR_046453.1:n.1723T>C
XM_011515781.1:c.1807T>C	XP_011514083.1:p.Trp603Arg
XM_011515782.1:c.529T>C	XP_011514084.1:p.Trp177Arg
XM_011515782.2:c.529T>C	XP_011514084.1:p.Trp177Arg
XM_017011739.1:c.1357T>C	XP_016867228.1:p.Trp453Arg
XM_017011740.1:c.1333T>C	XP_016867229.1:p.Trp445Arg
NM_000083.3:c.1783T>C MANE Select	NP_000074.3:p.Trp595Arg
NR_046453.2:n.1738T>C