Canonical Allele Identifier: CA458283411

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143039155C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143342062C>T , CM000669.2:g.143342062C>T	GRCh38
NC_000007.13:g.143039155C>T , CM000669.1:g.143039155C>T	GRCh37
NC_000007.12:g.142749277C>T	NCBI36
NG_009815.1:g.30937C>T
NG_009815.2:g.30937C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1716C>T	ENSP00000498052.2:p.Ser572=
ENST00000343257.7:c.1716C>T MANE Select	ENSP00000339867.2:p.Ser572=
ENST00000432192.6:c.1540C>T
ENST00000343257.6:c.1716C>T	ENSP00000339867.2:p.Ser572=
NM_000083.2:c.1716C>T	NP_000074.2:p.Ser572=
NR_046453.1:n.1656C>T
XM_011515781.1:c.1740C>T	XP_011514083.1:p.Ser580=
XM_011515782.1:c.462C>T	XP_011514084.1:p.Ser154=
XM_011515782.2:c.462C>T	XP_011514084.1:p.Ser154=
XM_017011739.1:c.1290C>T	XP_016867228.1:p.Ser430=
XM_017011740.1:c.1266C>T	XP_016867229.1:p.Ser422=
NM_000083.3:c.1716C>T MANE Select	NP_000074.3:p.Ser572=
NR_046453.2:n.1671C>T