Canonical Allele Identifier: CA369654148

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143048994A>C (hg19) ; chr7:g.143351901A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351901A>C , CM000669.2:g.143351901A>C	GRCh38
NC_000007.13:g.143048994A>C , CM000669.1:g.143048994A>C	GRCh37
NC_000007.12:g.142759116A>C	NCBI36
NG_009815.1:g.40776A>C
NG_009815.2:g.40776A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2903A>C	ENSP00000498052.2:p.Asp968Ala
ENST00000343257.7:c.2903A>C MANE Select	ENSP00000339867.2:p.Asp968Ala
ENST00000343257.6:c.2903A>C	ENSP00000339867.2:p.Asp968Ala
NM_000083.2:c.2903A>C	NP_000074.2:p.Asp968Ala
NR_046453.1:n.2843A>C
XM_011515781.1:c.2927A>C	XP_011514083.1:p.Asp976Ala
XM_011515782.1:c.1649A>C	XP_011514084.1:p.Asp550Ala
XM_011515782.2:c.1649A>C	XP_011514084.1:p.Asp550Ala
XM_017011739.1:c.2477A>C	XP_016867228.1:p.Asp826Ala
XM_017011740.1:c.2453A>C	XP_016867229.1:p.Asp818Ala
NM_000083.3:c.2903A>C MANE Select	NP_000074.3:p.Asp968Ala
NR_046453.2:n.2858A>C