Canonical Allele Identifier: CA369652478

Gene: CLCN1

Linked Data

• gnomAD v4: 7-143350378-G-T
• MyVariant Identifiers: chr7:g.143047471G>T (hg19) ; chr7:g.143350378G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143350378G>T , CM000669.2:g.143350378G>T	GRCh38
NC_000007.13:g.143047471G>T , CM000669.1:g.143047471G>T	GRCh37
NC_000007.12:g.142757593G>T	NCBI36
NG_009815.1:g.39253G>T
NG_009815.2:g.39253G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.2410G>T	ENSP00000498052.2:p.Ala804Ser
ENST00000343257.7:c.2410G>T MANE Select	ENSP00000339867.2:p.Ala804Ser
ENST00000432192.6:c.2234G>T
ENST00000343257.6:c.2410G>T	ENSP00000339867.2:p.Ala804Ser
NM_000083.2:c.2410G>T	NP_000074.2:p.Ala804Ser
NR_046453.1:n.2350G>T
XM_011515781.1:c.2434G>T	XP_011514083.1:p.Ala812Ser
XM_011515782.1:c.1156G>T	XP_011514084.1:p.Ala386Ser
XM_011515782.2:c.1156G>T	XP_011514084.1:p.Ala386Ser
XM_017011739.1:c.1984G>T	XP_016867228.1:p.Ala662Ser
XM_017011740.1:c.1960G>T	XP_016867229.1:p.Ala654Ser
NM_000083.3:c.2410G>T MANE Select	NP_000074.3:p.Ala804Ser
NR_046453.2:n.2365G>T