Canonical Allele Identifier: CA369643832

Gene: CLCN1

Linked Data

• dbSNP Id: rs1563079994
• gnomAD v2: 7-143029842-C-A
• gnomAD v4: 7-143332749-C-A
• MyVariant Identifiers: chr7:g.143029842C>A (hg19) ; chr7:g.143029842_143029846delinsATTTG (hg19) ; chr7:g.143332749C>A (hg38) ; chr7:g.143332749_143332753delinsATTTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143332749C>A , CM000669.2:g.143332749C>A	GRCh38
NC_000007.13:g.143029842C>A , CM000669.1:g.143029842C>A	GRCh37
NC_000007.12:g.142739964C>A	NCBI36
NG_009815.1:g.21624C>A
NG_009815.2:g.21624C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1277C>A	ENSP00000498052.2:p.Thr426Asn
ENST00000343257.7:c.1277C>A MANE Select	ENSP00000339867.2:p.Thr426Asn
ENST00000432192.6:c.1101C>A
ENST00000343257.6:c.1277C>A	ENSP00000339867.2:p.Thr426Asn
NM_000083.2:c.1277C>A	NP_000074.2:p.Thr426Asn
NR_046453.1:n.1341+246C>A
XM_011515781.1:c.1301C>A	XP_011514083.1:p.Thr434Asn
XM_011515782.1:c.23C>A	XP_011514084.1:p.Thr8Asn
XM_011515782.2:c.23C>A	XP_011514084.1:p.Thr8Asn
XM_017011739.1:c.851C>A	XP_016867228.1:p.Thr284Asn
XM_017011740.1:c.827C>A	XP_016867229.1:p.Thr276Asn
NM_000083.3:c.1277C>A MANE Select	NP_000074.3:p.Thr426Asn
NR_046453.2:n.1356+246C>A