Canonical Allele Identifier: CA369653570

Gene: CLCN1

Linked Data

• dbSNP Id: rs1803410046
• gnomAD v3: 7-143351665-C-A
• gnomAD v4: 7-143351665-C-A
• MyVariant Identifiers: chr7:g.143048758C>A (hg19) ; chr7:g.143351665C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351665C>A , CM000669.2:g.143351665C>A	GRCh38
NC_000007.13:g.143048758C>A , CM000669.1:g.143048758C>A	GRCh37
NC_000007.12:g.142758880C>A	NCBI36
NG_009815.1:g.40540C>A
NG_009815.2:g.40540C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2667C>A	ENSP00000498052.2:p.Asn889Lys
ENST00000343257.7:c.2667C>A MANE Select	ENSP00000339867.2:p.Asn889Lys
ENST00000432192.6:c.2491C>A
ENST00000343257.6:c.2667C>A	ENSP00000339867.2:p.Asn889Lys
NM_000083.2:c.2667C>A	NP_000074.2:p.Asn889Lys
NR_046453.1:n.2607C>A
XM_011515781.1:c.2691C>A	XP_011514083.1:p.Asn897Lys
XM_011515782.1:c.1413C>A	XP_011514084.1:p.Asn471Lys
XM_011515782.2:c.1413C>A	XP_011514084.1:p.Asn471Lys
XM_017011739.1:c.2241C>A	XP_016867228.1:p.Asn747Lys
XM_017011740.1:c.2217C>A	XP_016867229.1:p.Asn739Lys
NM_000083.3:c.2667C>A MANE Select	NP_000074.3:p.Asn889Lys
NR_046453.2:n.2622C>A