Canonical Allele Identifier: CA369641711

Gene: CLCN1

Linked Data

• gnomAD v4: 7-143330879-G-C
• MyVariant Identifiers: chr7:g.143027972G>C (hg19) ; chr7:g.143330879G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143330879G>C , CM000669.2:g.143330879G>C	GRCh38
NC_000007.13:g.143027972G>C , CM000669.1:g.143027972G>C	GRCh37
NC_000007.12:g.142738094G>C	NCBI36
NG_009815.1:g.19754G>C
NG_009815.2:g.19754G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.961G>C	ENSP00000498052.2:p.Val321Leu
ENST00000343257.7:c.961G>C MANE Select	ENSP00000339867.2:p.Val321Leu
ENST00000432192.6:c.785G>C
ENST00000455478.6:c.549G>C	ENSP00000400027.2:n.549G>C
ENST00000650516.1:c.961G>C	ENSP00000498052.1:p.Val321Leu
ENST00000343257.6:c.961G>C	ENSP00000339867.2:p.Val321Leu
ENST00000432192.5:c.475G>C
ENST00000455478.5:c.553G>C
ENST00000495612.1:n.262G>C
NM_000083.2:c.961G>C	NP_000074.2:p.Val321Leu
NR_046453.1:n.1051G>C
XM_011515781.1:c.961G>C	XP_011514083.1:p.Val321Leu
XM_017011739.1:c.511G>C	XP_016867228.1:p.Val171Leu
XM_017011740.1:c.511G>C	XP_016867229.1:p.Val171Leu
NM_000083.3:c.961G>C MANE Select	NP_000074.3:p.Val321Leu
NR_046453.2:n.1066G>C