Canonical Allele Identifier: CA458542623

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143049016G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351923G>T , CM000669.2:g.143351923G>T	GRCh38
NC_000007.13:g.143049016G>T , CM000669.1:g.143049016G>T	GRCh37
NC_000007.12:g.142759138G>T	NCBI36
NG_009815.1:g.40798G>T
NG_009815.2:g.40798G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2925G>T	ENSP00000498052.2:p.Leu975=
ENST00000343257.7:c.2925G>T MANE Select	ENSP00000339867.2:p.Leu975=
ENST00000343257.6:c.2925G>T	ENSP00000339867.2:p.Leu975=
NM_000083.2:c.2925G>T	NP_000074.2:p.Leu975=
NR_046453.1:n.2865G>T
XM_011515781.1:c.2949G>T	XP_011514083.1:p.Leu983=
XM_011515782.1:c.1671G>T	XP_011514084.1:p.Leu557=
XM_011515782.2:c.1671G>T	XP_011514084.1:p.Leu557=
XM_017011739.1:c.2499G>T	XP_016867228.1:p.Leu833=
XM_017011740.1:c.2475G>T	XP_016867229.1:p.Leu825=
NM_000083.3:c.2925G>T MANE Select	NP_000074.3:p.Leu975=
NR_046453.2:n.2880G>T