Canonical Allele Identifier: CA4537821

Gene: CLCN1

Linked Data

• dbSNP Id: rs765388493
• ExAC: 7:143049060 C / T
• gnomAD v2: 7-143049060-C-T
• gnomAD v3: 7-143351967-C-T
• gnomAD v4: 7-143351967-C-T
• MyVariant Identifiers: chr7:g.143049060C>T (hg19) ; chr7:g.143351967C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351967C>T , CM000669.2:g.143351967C>T	GRCh38
NC_000007.13:g.143049060C>T , CM000669.1:g.143049060C>T	GRCh37
NC_000007.12:g.142759182C>T	NCBI36
NG_009815.1:g.40842C>T
NG_009815.2:g.40842C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.*2C>T	ENSP00000498052.2:n.*2C>T
ENST00000343257.7:c.*2C>T MANE Select	ENSP00000339867.2:n.*2C>T
ENST00000343257.6:c.*2C>T	ENSP00000339867.2:n.*2C>T
NM_000083.2:c.*2C>T	NP_000074.2:n.*2C>T
NR_046453.1:n.2909C>T
XM_011515781.1:c.*2C>T	XP_011514083.1:n.*2C>T
XM_011515782.1:c.*2C>T	XP_011514084.1:n.*2C>T
XM_011515782.2:c.*2C>T	XP_011514084.1:n.*2C>T
XM_017011739.1:c.*2C>T	XP_016867228.1:n.*2C>T
XM_017011740.1:c.*2C>T	XP_016867229.1:n.*2C>T
NM_000083.3:c.*2C>T MANE Select	NP_000074.3:n.*2C>T
NR_046453.2:n.2924C>T