Canonical Allele Identifier: CA458283359

Gene: CLCN1

Linked Data

• dbSNP Id: rs1338978465
• gnomAD v2: 7-143039107-C-T
• gnomAD v4: 7-143342014-C-T
• MyVariant Identifiers: chr7:g.143039107C>T (hg19) ; chr7:g.143342014C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143342014C>T , CM000669.2:g.143342014C>T	GRCh38
NC_000007.13:g.143039107C>T , CM000669.1:g.143039107C>T	GRCh37
NC_000007.12:g.142749229C>T	NCBI36
NG_009815.1:g.30889C>T
NG_009815.2:g.30889C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1668C>T	ENSP00000498052.2:p.Ile556=
ENST00000343257.7:c.1668C>T MANE Select	ENSP00000339867.2:p.Ile556=
ENST00000432192.6:c.1492C>T
ENST00000343257.6:c.1668C>T	ENSP00000339867.2:p.Ile556=
NM_000083.2:c.1668C>T	NP_000074.2:p.Ile556=
NR_046453.1:n.1608C>T
XM_011515781.1:c.1692C>T	XP_011514083.1:p.Ile564=
XM_011515782.1:c.414C>T	XP_011514084.1:p.Ile138=
XM_011515782.2:c.414C>T	XP_011514084.1:p.Ile138=
XM_017011739.1:c.1242C>T	XP_016867228.1:p.Ile414=
XM_017011740.1:c.1218C>T	XP_016867229.1:p.Ile406=
NM_000083.3:c.1668C>T MANE Select	NP_000074.3:p.Ile556=
NR_046453.2:n.1623C>T