Canonical Allele Identifier: CA369684467

Gene: CLCN1

Linked Data

• dbSNP Id: rs2116838484
• MyVariant Identifiers: chr7:g.143018847T>C (hg19) ; chr7:g.143321754T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321754T>C , CM000669.2:g.143321754T>C	GRCh38
NC_000007.13:g.143018847T>C , CM000669.1:g.143018847T>C	GRCh37
NC_000007.12:g.142728969T>C	NCBI36
NG_009815.1:g.10629T>C
NG_009815.2:g.10629T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.602T>C	ENSP00000498052.2:p.Val201Ala
ENST00000343257.7:c.602T>C MANE Select	ENSP00000339867.2:p.Val201Ala
ENST00000432192.6:c.370T>C
ENST00000455478.6:c.56T>C	ENSP00000400027.2:p.Val19Ala
ENST00000650516.1:c.602T>C	ENSP00000498052.1:p.Val201Ala
ENST00000343257.6:c.602T>C	ENSP00000339867.2:p.Val201Ala
ENST00000432192.5:c.60T>C
ENST00000455478.5:c.60T>C
ENST00000495612.1:n.60T>C
NM_000083.2:c.602T>C	NP_000074.2:p.Val201Ala
NR_046453.1:n.689T>C
XM_011515781.1:c.602T>C	XP_011514083.1:p.Val201Ala
XM_017011739.1:c.309T>C	XP_016867228.1:p.Gly103=
XM_017011740.1:c.309T>C	XP_016867229.1:p.Gly103=
NM_000083.3:c.602T>C MANE Select	NP_000074.3:p.Val201Ala
NR_046453.2:n.704T>C