Canonical Allele Identifier: CA4537449

Gene: CLCN1

Linked Data

• dbSNP Id: rs777069913
• ExAC: 7:143039131 C / T
• gnomAD v2: 7-143039131-C-T
• MyVariant Identifiers: chr7:g.143039131C>T (hg19) ; chr7:g.143342038C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143342038C>T , CM000669.2:g.143342038C>T	GRCh38
NC_000007.13:g.143039131C>T , CM000669.1:g.143039131C>T	GRCh37
NC_000007.12:g.142749253C>T	NCBI36
NG_009815.1:g.30913C>T
NG_009815.2:g.30913C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1692C>T	ENSP00000498052.2:p.Ile564=
ENST00000343257.7:c.1692C>T MANE Select	ENSP00000339867.2:p.Ile564=
ENST00000432192.6:c.1516C>T
ENST00000343257.6:c.1692C>T	ENSP00000339867.2:p.Ile564=
NM_000083.2:c.1692C>T	NP_000074.2:p.Ile564=
NR_046453.1:n.1632C>T
XM_011515781.1:c.1716C>T	XP_011514083.1:p.Ile572=
XM_011515782.1:c.438C>T	XP_011514084.1:p.Ile146=
XM_011515782.2:c.438C>T	XP_011514084.1:p.Ile146=
XM_017011739.1:c.1266C>T	XP_016867228.1:p.Ile422=
XM_017011740.1:c.1242C>T	XP_016867229.1:p.Ile414=
NM_000083.3:c.1692C>T MANE Select	NP_000074.3:p.Ile564=
NR_046453.2:n.1647C>T