Canonical Allele Identifier: CA168213113

Gene: CLCN1

Linked Data

• dbSNP Id: rs947664109
• gnomAD v4: 7-143331448-T-C
• MyVariant Identifiers: chr7:g.143028541T>C (hg19) ; chr7:g.143331448T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143331448T>C , CM000669.2:g.143331448T>C	GRCh38
NC_000007.13:g.143028541T>C , CM000669.1:g.143028541T>C	GRCh37
NC_000007.12:g.142738663T>C	NCBI36
NG_009815.1:g.20323T>C
NG_009815.2:g.20323T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1065-103T>C	ENSP00000498052.2:n.1065-103T>C
ENST00000343257.7:c.1065-103T>C MANE Select	ENSP00000339867.2:n.1065-103T>C
ENST00000432192.6:c.889-103T>C
ENST00000343257.6:c.1065-103T>C	ENSP00000339867.2:n.1065-103T>C
NM_000083.2:c.1065-103T>C	NP_000074.2:n.1065-103T>C
NR_046453.1:n.1155-103T>C
XM_011515781.1:c.1065-103T>C	XP_011514083.1:n.1065-103T>C
XM_017011739.1:c.615-103T>C	XP_016867228.1:n.615-103T>C
XM_017011740.1:c.615-103T>C	XP_016867229.1:n.615-103T>C
NM_000083.3:c.1065-103T>C MANE Select	NP_000074.3:n.1065-103T>C
NR_046453.2:n.1170-103T>C