Canonical Allele Identifier: CA4537437

Gene: CLCN1

Linked Data

• dbSNP Id: rs752814433
• ExAC: 7:143039043 C / A
• gnomAD v2: 7-143039043-C-A
• MyVariant Identifiers: chr7:g.143039043C>A (hg19) ; chr7:g.143341950C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143341950C>A , CM000669.2:g.143341950C>A	GRCh38
NC_000007.13:g.143039043C>A , CM000669.1:g.143039043C>A	GRCh37
NC_000007.12:g.142749165C>A	NCBI36
NG_009815.1:g.30825C>A
NG_009815.2:g.30825C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1604C>A	ENSP00000498052.2:p.Ala535Asp
ENST00000343257.7:c.1604C>A MANE Select	ENSP00000339867.2:p.Ala535Asp
ENST00000432192.6:c.1428C>A
ENST00000343257.6:c.1604C>A	ENSP00000339867.2:p.Ala535Asp
NM_000083.2:c.1604C>A	NP_000074.2:p.Ala535Asp
NR_046453.1:n.1544C>A
XM_011515781.1:c.1628C>A	XP_011514083.1:p.Ala543Asp
XM_011515782.1:c.350C>A	XP_011514084.1:p.Ala117Asp
XM_011515782.2:c.350C>A	XP_011514084.1:p.Ala117Asp
XM_017011739.1:c.1178C>A	XP_016867228.1:p.Ala393Asp
XM_017011740.1:c.1154C>A	XP_016867229.1:p.Ala385Asp
NM_000083.3:c.1604C>A MANE Select	NP_000074.3:p.Ala535Asp
NR_046453.2:n.1559C>A