Canonical Allele Identifier: CA369653864

Gene: CLCN1

Linked Data

• dbSNP Id: rs574104250
• gnomAD v2: 7-143048906-C-T
• gnomAD v3: 7-143351813-C-T
• gnomAD v4: 7-143351813-C-T
• MyVariant Identifiers: chr7:g.143048906C>T (hg19) ; chr7:g.143351813C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351813C>T , CM000669.2:g.143351813C>T	GRCh38
NC_000007.13:g.143048906C>T , CM000669.1:g.143048906C>T	GRCh37
NC_000007.12:g.142759028C>T	NCBI36
NG_009815.1:g.40688C>T
NG_009815.2:g.40688C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2815C>T	ENSP00000498052.2:p.Pro939Ser
ENST00000343257.7:c.2815C>T MANE Select	ENSP00000339867.2:p.Pro939Ser
ENST00000343257.6:c.2815C>T	ENSP00000339867.2:p.Pro939Ser
NM_000083.2:c.2815C>T	NP_000074.2:p.Pro939Ser
NR_046453.1:n.2755C>T
XM_011515781.1:c.2839C>T	XP_011514083.1:p.Pro947Ser
XM_011515782.1:c.1561C>T	XP_011514084.1:p.Pro521Ser
XM_011515782.2:c.1561C>T	XP_011514084.1:p.Pro521Ser
XM_017011739.1:c.2389C>T	XP_016867228.1:p.Pro797Ser
XM_017011740.1:c.2365C>T	XP_016867229.1:p.Pro789Ser
NM_000083.3:c.2815C>T MANE Select	NP_000074.3:p.Pro939Ser
NR_046453.2:n.2770C>T