Canonical Allele Identifier: CA458283221

Gene: CLCN1

Linked Data

• gnomAD v4: 7-143341945-T-C
• MyVariant Identifiers: chr7:g.143039038T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143341945T>C , CM000669.2:g.143341945T>C	GRCh38
NC_000007.13:g.143039038T>C , CM000669.1:g.143039038T>C	GRCh37
NC_000007.12:g.142749160T>C	NCBI36
NG_009815.1:g.30820T>C
NG_009815.2:g.30820T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1599T>C	ENSP00000498052.2:p.Thr533=
ENST00000343257.7:c.1599T>C MANE Select	ENSP00000339867.2:p.Thr533=
ENST00000432192.6:c.1423T>C
ENST00000343257.6:c.1599T>C	ENSP00000339867.2:p.Thr533=
NM_000083.2:c.1599T>C	NP_000074.2:p.Thr533=
NR_046453.1:n.1539T>C
XM_011515781.1:c.1623T>C	XP_011514083.1:p.Thr541=
XM_011515782.1:c.345T>C	XP_011514084.1:p.Thr115=
XM_011515782.2:c.345T>C	XP_011514084.1:p.Thr115=
XM_017011739.1:c.1173T>C	XP_016867228.1:p.Thr391=
XM_017011740.1:c.1149T>C	XP_016867229.1:p.Thr383=
NM_000083.3:c.1599T>C MANE Select	NP_000074.3:p.Thr533=
NR_046453.2:n.1554T>C