Canonical Allele Identifier: CA369643992

Gene: CLCN1

Linked Data

• gnomAD v4: 7-143332772-G-C
• MyVariant Identifiers: chr7:g.143029865G>C (hg19) ; chr7:g.143332772G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143332772G>C , CM000669.2:g.143332772G>C	GRCh38
NC_000007.13:g.143029865G>C , CM000669.1:g.143029865G>C	GRCh37
NC_000007.12:g.142739987G>C	NCBI36
NG_009815.1:g.21647G>C
NG_009815.2:g.21647G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1300G>C	ENSP00000498052.2:p.Val434Leu
ENST00000343257.7:c.1300G>C MANE Select	ENSP00000339867.2:p.Val434Leu
ENST00000432192.6:c.1124G>C
ENST00000343257.6:c.1300G>C	ENSP00000339867.2:p.Val434Leu
NM_000083.2:c.1300G>C	NP_000074.2:p.Val434Leu
NR_046453.1:n.1341+269G>C
XM_011515781.1:c.1324G>C	XP_011514083.1:p.Val442Leu
XM_011515782.1:c.46G>C	XP_011514084.1:p.Val16Leu
XM_011515782.2:c.46G>C	XP_011514084.1:p.Val16Leu
XM_017011739.1:c.874G>C	XP_016867228.1:p.Val292Leu
XM_017011740.1:c.850G>C	XP_016867229.1:p.Val284Leu
NM_000083.3:c.1300G>C MANE Select	NP_000074.3:p.Val434Leu
NR_046453.2:n.1356+269G>C