Canonical Allele Identifier: CA369653841

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143048894T>G (hg19) ; chr7:g.143351801T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351801T>G , CM000669.2:g.143351801T>G	GRCh38
NC_000007.13:g.143048894T>G , CM000669.1:g.143048894T>G	GRCh37
NC_000007.12:g.142759016T>G	NCBI36
NG_009815.1:g.40676T>G
NG_009815.2:g.40676T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2803T>G	ENSP00000498052.2:p.Ser935Ala
ENST00000343257.7:c.2803T>G MANE Select	ENSP00000339867.2:p.Ser935Ala
ENST00000343257.6:c.2803T>G	ENSP00000339867.2:p.Ser935Ala
NM_000083.2:c.2803T>G	NP_000074.2:p.Ser935Ala
NR_046453.1:n.2743T>G
XM_011515781.1:c.2827T>G	XP_011514083.1:p.Ser943Ala
XM_011515782.1:c.1549T>G	XP_011514084.1:p.Ser517Ala
XM_011515782.2:c.1549T>G	XP_011514084.1:p.Ser517Ala
XM_017011739.1:c.2377T>G	XP_016867228.1:p.Ser793Ala
XM_017011740.1:c.2353T>G	XP_016867229.1:p.Ser785Ala
NM_000083.3:c.2803T>G MANE Select	NP_000074.3:p.Ser935Ala
NR_046453.2:n.2758T>G