Canonical Allele Identifier: CA4537773

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 569127
• ClinVar RCV Id: RCV000689675
• dbSNP Id: rs146862992
• ExAC: 7:143048813 A / G
• gnomAD v2: 7-143048813-A-G
• gnomAD v3: 7-143351720-A-G
• gnomAD v4: 7-143351720-A-G
• MyVariant Identifiers: chr7:g.143048813A>G (hg19) ; chr7:g.143351720A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351720A>G , CM000669.2:g.143351720A>G	GRCh38
NC_000007.13:g.143048813A>G , CM000669.1:g.143048813A>G	GRCh37
NC_000007.12:g.142758935A>G	NCBI36
NG_009815.1:g.40595A>G
NG_009815.2:g.40595A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2722A>G	ENSP00000498052.2:p.Asn908Asp
ENST00000343257.7:c.2722A>G MANE Select	ENSP00000339867.2:p.Asn908Asp
ENST00000432192.6:c.2546A>G
ENST00000343257.6:c.2722A>G	ENSP00000339867.2:p.Asn908Asp
NM_000083.2:c.2722A>G	NP_000074.2:p.Asn908Asp
NR_046453.1:n.2662A>G
XM_011515781.1:c.2746A>G	XP_011514083.1:p.Asn916Asp
XM_011515782.1:c.1468A>G	XP_011514084.1:p.Asn490Asp
XM_011515782.2:c.1468A>G	XP_011514084.1:p.Asn490Asp
XM_017011739.1:c.2296A>G	XP_016867228.1:p.Asn766Asp
XM_017011740.1:c.2272A>G	XP_016867229.1:p.Asn758Asp
NM_000083.3:c.2722A>G MANE Select	NP_000074.3:p.Asn908Asp
NR_046453.2:n.2677A>G