Canonical Allele Identifier: CA4537409

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 2925010
• ClinVar RCV Id: RCV003780664
• dbSNP Id: rs773897887
• ExAC: 7:143036641 C / T
• gnomAD v2: 7-143036641-C-T
• gnomAD v4: 7-143339548-C-T
• MyVariant Identifiers: chr7:g.143036641C>T (hg19) ; chr7:g.143339548C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143339548C>T , CM000669.2:g.143339548C>T	GRCh38
NC_000007.13:g.143036641C>T , CM000669.1:g.143036641C>T	GRCh37
NC_000007.12:g.142746763C>T	NCBI36
NG_009815.1:g.28423C>T
NG_009815.2:g.28423C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.1509C>T	ENSP00000498052.2:p.Ala503=
ENST00000343257.7:c.1509C>T MANE Select	ENSP00000339867.2:p.Ala503=
ENST00000432192.6:c.1333C>T
ENST00000343257.6:c.1509C>T	ENSP00000339867.2:p.Ala503=
NM_000083.2:c.1509C>T	NP_000074.2:p.Ala503=
NR_046453.1:n.1449C>T
XM_011515781.1:c.1533C>T	XP_011514083.1:p.Ala511=
XM_011515782.1:c.255C>T	XP_011514084.1:p.Ala85=
XM_011515782.2:c.255C>T	XP_011514084.1:p.Ala85=
XM_017011739.1:c.1083C>T	XP_016867228.1:p.Ala361=
XM_017011740.1:c.1059C>T	XP_016867229.1:p.Ala353=
NM_000083.3:c.1509C>T MANE Select	NP_000074.3:p.Ala503=
NR_046453.2:n.1464C>T