Canonical Allele Identifier: CA369646379

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143039040G>C (hg19) ; chr7:g.143341947G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143341947G>C , CM000669.2:g.143341947G>C	GRCh38
NC_000007.13:g.143039040G>C , CM000669.1:g.143039040G>C	GRCh37
NC_000007.12:g.142749162G>C	NCBI36
NG_009815.1:g.30822G>C
NG_009815.2:g.30822G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1601G>C	ENSP00000498052.2:p.Gly534Ala
ENST00000343257.7:c.1601G>C MANE Select	ENSP00000339867.2:p.Gly534Ala
ENST00000432192.6:c.1425G>C
ENST00000343257.6:c.1601G>C	ENSP00000339867.2:p.Gly534Ala
NM_000083.2:c.1601G>C	NP_000074.2:p.Gly534Ala
NR_046453.1:n.1541G>C
XM_011515781.1:c.1625G>C	XP_011514083.1:p.Gly542Ala
XM_011515782.1:c.347G>C	XP_011514084.1:p.Gly116Ala
XM_011515782.2:c.347G>C	XP_011514084.1:p.Gly116Ala
XM_017011739.1:c.1175G>C	XP_016867228.1:p.Gly392Ala
XM_017011740.1:c.1151G>C	XP_016867229.1:p.Gly384Ala
NM_000083.3:c.1601G>C MANE Select	NP_000074.3:p.Gly534Ala
NR_046453.2:n.1556G>C