Canonical Allele Identifier: CA369653819

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143048882G>C (hg19) ; chr7:g.143351789G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351789G>C , CM000669.2:g.143351789G>C	GRCh38
NC_000007.13:g.143048882G>C , CM000669.1:g.143048882G>C	GRCh37
NC_000007.12:g.142759004G>C	NCBI36
NG_009815.1:g.40664G>C
NG_009815.2:g.40664G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2791G>C	ENSP00000498052.2:p.Val931Leu
ENST00000343257.7:c.2791G>C MANE Select	ENSP00000339867.2:p.Val931Leu
ENST00000343257.6:c.2791G>C	ENSP00000339867.2:p.Val931Leu
NM_000083.2:c.2791G>C	NP_000074.2:p.Val931Leu
NR_046453.1:n.2731G>C
XM_011515781.1:c.2815G>C	XP_011514083.1:p.Val939Leu
XM_011515782.1:c.1537G>C	XP_011514084.1:p.Val513Leu
XM_011515782.2:c.1537G>C	XP_011514084.1:p.Val513Leu
XM_017011739.1:c.2365G>C	XP_016867228.1:p.Val789Leu
XM_017011740.1:c.2341G>C	XP_016867229.1:p.Val781Leu
NM_000083.3:c.2791G>C MANE Select	NP_000074.3:p.Val931Leu
NR_046453.2:n.2746G>C