Canonical Allele Identifier: CA458286326

Gene: CLCN1

Linked Data

• gnomAD v4: 7-143350374-T-C
• MyVariant Identifiers: chr7:g.143047467T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143350374T>C , CM000669.2:g.143350374T>C	GRCh38
NC_000007.13:g.143047467T>C , CM000669.1:g.143047467T>C	GRCh37
NC_000007.12:g.142757589T>C	NCBI36
NG_009815.1:g.39249T>C
NG_009815.2:g.39249T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2406T>C	ENSP00000498052.2:p.Ile802=
ENST00000343257.7:c.2406T>C MANE Select	ENSP00000339867.2:p.Ile802=
ENST00000432192.6:c.2230T>C
ENST00000343257.6:c.2406T>C	ENSP00000339867.2:p.Ile802=
NM_000083.2:c.2406T>C	NP_000074.2:p.Ile802=
NR_046453.1:n.2346T>C
XM_011515781.1:c.2430T>C	XP_011514083.1:p.Ile810=
XM_011515782.1:c.1152T>C	XP_011514084.1:p.Ile384=
XM_011515782.2:c.1152T>C	XP_011514084.1:p.Ile384=
XM_017011739.1:c.1980T>C	XP_016867228.1:p.Ile660=
XM_017011740.1:c.1956T>C	XP_016867229.1:p.Ile652=
NM_000083.3:c.2406T>C MANE Select	NP_000074.3:p.Ile802=
NR_046453.2:n.2361T>C