Canonical Allele Identifier: CA4537774

Gene: CLCN1

Linked Data

• dbSNP Id: rs139117651
• ExAC: 7:143048815 C / A
• gnomAD v2: 7-143048815-C-A
• gnomAD v4: 7-143351722-C-A
• MyVariant Identifiers: chr7:g.143048815C>A (hg19) ; chr7:g.143351722C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351722C>A , CM000669.2:g.143351722C>A	GRCh38
NC_000007.13:g.143048815C>A , CM000669.1:g.143048815C>A	GRCh37
NC_000007.12:g.142758937C>A	NCBI36
NG_009815.1:g.40597C>A
NG_009815.2:g.40597C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2724C>A	ENSP00000498052.2:p.Asn908Lys
ENST00000343257.7:c.2724C>A MANE Select	ENSP00000339867.2:p.Asn908Lys
ENST00000432192.6:c.2548C>A
ENST00000343257.6:c.2724C>A	ENSP00000339867.2:p.Asn908Lys
NM_000083.2:c.2724C>A	NP_000074.2:p.Asn908Lys
NR_046453.1:n.2664C>A
XM_011515781.1:c.2748C>A	XP_011514083.1:p.Asn916Lys
XM_011515782.1:c.1470C>A	XP_011514084.1:p.Asn490Lys
XM_011515782.2:c.1470C>A	XP_011514084.1:p.Asn490Lys
XM_017011739.1:c.2298C>A	XP_016867228.1:p.Asn766Lys
XM_017011740.1:c.2274C>A	XP_016867229.1:p.Asn758Lys
NM_000083.3:c.2724C>A MANE Select	NP_000074.3:p.Asn908Lys
NR_046453.2:n.2679C>A