Canonical Allele Identifier: CA369646417

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 578176
• ClinVar RCV Id: RCV000701109
• dbSNP Id: rs1563084569
• MyVariant Identifiers: chr7:g.143039060T>G (hg19) ; chr7:g.143341967T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143341967T>G , CM000669.2:g.143341967T>G	GRCh38
NC_000007.13:g.143039060T>G , CM000669.1:g.143039060T>G	GRCh37
NC_000007.12:g.142749182T>G	NCBI36
NG_009815.1:g.30842T>G
NG_009815.2:g.30842T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1621T>G	ENSP00000498052.2:p.Ser541Ala
ENST00000343257.7:c.1621T>G MANE Select	ENSP00000339867.2:p.Ser541Ala
ENST00000432192.6:c.1445T>G
ENST00000343257.6:c.1621T>G	ENSP00000339867.2:p.Ser541Ala
NM_000083.2:c.1621T>G	NP_000074.2:p.Ser541Ala
NR_046453.1:n.1561T>G
XM_011515781.1:c.1645T>G	XP_011514083.1:p.Ser549Ala
XM_011515782.1:c.367T>G	XP_011514084.1:p.Ser123Ala
XM_011515782.2:c.367T>G	XP_011514084.1:p.Ser123Ala
XM_017011739.1:c.1195T>G	XP_016867228.1:p.Ser399Ala
XM_017011740.1:c.1171T>G	XP_016867229.1:p.Ser391Ala
NM_000083.3:c.1621T>G MANE Select	NP_000074.3:p.Ser541Ala
NR_046453.2:n.1576T>G