Canonical Allele Identifier: CA369645477

Gene: CLCN1

Linked Data

• gnomAD v4: 7-143339324-T-C
• MyVariant Identifiers: chr7:g.143036417T>C (hg19) ; chr7:g.143339324T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143339324T>C , CM000669.2:g.143339324T>C	GRCh38
NC_000007.13:g.143036417T>C , CM000669.1:g.143036417T>C	GRCh37
NC_000007.12:g.142746539T>C	NCBI36
NG_009815.1:g.28199T>C
NG_009815.2:g.28199T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1471+2T>C	ENSP00000498052.2:n.1471+2T>C
ENST00000343257.7:c.1471+2T>C MANE Select	ENSP00000339867.2:n.1471+2T>C
ENST00000432192.6:c.1295+2T>C
ENST00000343257.6:c.1471+2T>C	ENSP00000339867.2:n.1471+2T>C
NM_000083.2:c.1471+2T>C	NP_000074.2:n.1471+2T>C
NR_046453.1:n.1411+2T>C
XM_011515781.1:c.1495+2T>C	XP_011514083.1:n.1495+2T>C
XM_011515782.1:c.217+2T>C	XP_011514084.1:n.217+2T>C
XM_011515782.2:c.217+2T>C	XP_011514084.1:n.217+2T>C
XM_017011739.1:c.1045+2T>C	XP_016867228.1:n.1045+2T>C
XM_017011740.1:c.1021+2T>C	XP_016867229.1:n.1021+2T>C
NM_000083.3:c.1471+2T>C MANE Select	NP_000074.3:n.1471+2T>C
NR_046453.2:n.1426+2T>C