Canonical Allele Identifier: CA458542456

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143048800T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351707T>C , CM000669.2:g.143351707T>C	GRCh38
NC_000007.13:g.143048800T>C , CM000669.1:g.143048800T>C	GRCh37
NC_000007.12:g.142758922T>C	NCBI36
NG_009815.1:g.40582T>C
NG_009815.2:g.40582T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2709T>C	ENSP00000498052.2:p.Ser903=
ENST00000343257.7:c.2709T>C MANE Select	ENSP00000339867.2:p.Ser903=
ENST00000432192.6:c.2533T>C
ENST00000343257.6:c.2709T>C	ENSP00000339867.2:p.Ser903=
NM_000083.2:c.2709T>C	NP_000074.2:p.Ser903=
NR_046453.1:n.2649T>C
XM_011515781.1:c.2733T>C	XP_011514083.1:p.Ser911=
XM_011515782.1:c.1455T>C	XP_011514084.1:p.Ser485=
XM_011515782.2:c.1455T>C	XP_011514084.1:p.Ser485=
XM_017011739.1:c.2283T>C	XP_016867228.1:p.Ser761=
XM_017011740.1:c.2259T>C	XP_016867229.1:p.Ser753=
NM_000083.3:c.2709T>C MANE Select	NP_000074.3:p.Ser903=
NR_046453.2:n.2664T>C