Canonical Allele Identifier: CA369654079

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143048976T>A (hg19) ; chr7:g.143351883T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351883T>A , CM000669.2:g.143351883T>A	GRCh38
NC_000007.13:g.143048976T>A , CM000669.1:g.143048976T>A	GRCh37
NC_000007.12:g.142759098T>A	NCBI36
NG_009815.1:g.40758T>A
NG_009815.2:g.40758T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2885T>A	ENSP00000498052.2:p.Leu962Gln
ENST00000343257.7:c.2885T>A MANE Select	ENSP00000339867.2:p.Leu962Gln
ENST00000343257.6:c.2885T>A	ENSP00000339867.2:p.Leu962Gln
NM_000083.2:c.2885T>A	NP_000074.2:p.Leu962Gln
NR_046453.1:n.2825T>A
XM_011515781.1:c.2909T>A	XP_011514083.1:p.Leu970Gln
XM_011515782.1:c.1631T>A	XP_011514084.1:p.Leu544Gln
XM_011515782.2:c.1631T>A	XP_011514084.1:p.Leu544Gln
XM_017011739.1:c.2459T>A	XP_016867228.1:p.Leu820Gln
XM_017011740.1:c.2435T>A	XP_016867229.1:p.Leu812Gln
NM_000083.3:c.2885T>A MANE Select	NP_000074.3:p.Leu962Gln
NR_046453.2:n.2840T>A