Canonical Allele Identifier: CA168221900

Gene: CLCN1

Linked Data

• dbSNP Id: rs915076975
• gnomAD v3: 7-143342283-A-C
• gnomAD v4: 7-143342283-A-C
• MyVariant Identifiers: chr7:g.143039376A>C (hg19) ; chr7:g.143342283A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143342283A>C , CM000669.2:g.143342283A>C	GRCh38
NC_000007.13:g.143039376A>C , CM000669.1:g.143039376A>C	GRCh37
NC_000007.12:g.142749498A>C	NCBI36
NG_009815.1:g.31158A>C
NG_009815.2:g.31158A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1797-89A>C	ENSP00000498052.2:n.1797-89A>C
ENST00000343257.7:c.1797-89A>C MANE Select	ENSP00000339867.2:n.1797-89A>C
ENST00000432192.6:c.1621-89A>C
ENST00000343257.6:c.1797-89A>C	ENSP00000339867.2:n.1797-89A>C
NM_000083.2:c.1797-89A>C	NP_000074.2:n.1797-89A>C
NR_046453.1:n.1737-89A>C
XM_011515781.1:c.1821-89A>C	XP_011514083.1:n.1821-89A>C
XM_011515782.1:c.543-89A>C	XP_011514084.1:n.543-89A>C
XM_011515782.2:c.543-89A>C	XP_011514084.1:n.543-89A>C
XM_017011739.1:c.1371-89A>C	XP_016867228.1:n.1371-89A>C
XM_017011740.1:c.1347-89A>C	XP_016867229.1:n.1347-89A>C
NM_000083.3:c.1797-89A>C MANE Select	NP_000074.3:n.1797-89A>C
NR_046453.2:n.1752-89A>C