Canonical Allele Identifier: CA4537771

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 2926370
• ClinVar RCV Id: RCV003786656
• dbSNP Id: rs776375903
• ExAC: 7:143048791 T / A
• gnomAD v2: 7-143048791-T-A
• gnomAD v4: 7-143351698-T-A
• MyVariant Identifiers: chr7:g.143048791T>A (hg19) ; chr7:g.143351698T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351698T>A , CM000669.2:g.143351698T>A	GRCh38
NC_000007.13:g.143048791T>A , CM000669.1:g.143048791T>A	GRCh37
NC_000007.12:g.142758913T>A	NCBI36
NG_009815.1:g.40573T>A
NG_009815.2:g.40573T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2700T>A	ENSP00000498052.2:p.Pro900=
ENST00000343257.7:c.2700T>A MANE Select	ENSP00000339867.2:p.Pro900=
ENST00000432192.6:c.2524T>A
ENST00000343257.6:c.2700T>A	ENSP00000339867.2:p.Pro900=
NM_000083.2:c.2700T>A	NP_000074.2:p.Pro900=
NR_046453.1:n.2640T>A
XM_011515781.1:c.2724T>A	XP_011514083.1:p.Pro908=
XM_011515782.1:c.1446T>A	XP_011514084.1:p.Pro482=
XM_011515782.2:c.1446T>A	XP_011514084.1:p.Pro482=
XM_017011739.1:c.2274T>A	XP_016867228.1:p.Pro758=
XM_017011740.1:c.2250T>A	XP_016867229.1:p.Pro750=
NM_000083.3:c.2700T>A MANE Select	NP_000074.3:p.Pro900=
NR_046453.2:n.2655T>A