Canonical Allele Identifier: CA168219344

Gene: CLCN1

Linked Data

• dbSNP Id: rs771715689
• gnomAD v2: 7-143036202-A-T
• gnomAD v3: 7-143339109-A-T
• gnomAD v4: 7-143339109-A-T
• MyVariant Identifiers: chr7:g.143036202A>T (hg19) ; chr7:g.143339109A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143339109A>T , CM000669.2:g.143339109A>T	GRCh38
NC_000007.13:g.143036202A>T , CM000669.1:g.143036202A>T	GRCh37
NC_000007.12:g.142746324A>T	NCBI36
NG_009815.1:g.27984A>T
NG_009815.2:g.27984A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1402-144A>T	ENSP00000498052.2:n.1402-144A>T
ENST00000343257.7:c.1402-144A>T MANE Select	ENSP00000339867.2:n.1402-144A>T
ENST00000432192.6:c.1226-144A>T
ENST00000343257.6:c.1402-144A>T	ENSP00000339867.2:n.1402-144A>T
NM_000083.2:c.1402-144A>T	NP_000074.2:n.1402-144A>T
NR_046453.1:n.1342-144A>T
XM_011515781.1:c.1426-144A>T	XP_011514083.1:n.1426-144A>T
XM_011515782.1:c.148-144A>T	XP_011514084.1:n.148-144A>T
XM_011515782.2:c.148-144A>T	XP_011514084.1:n.148-144A>T
XM_017011739.1:c.976-144A>T	XP_016867228.1:n.976-144A>T
XM_017011740.1:c.952-144A>T	XP_016867229.1:n.952-144A>T
NM_000083.3:c.1402-144A>T MANE Select	NP_000074.3:n.1402-144A>T
NR_046453.2:n.1357-144A>T