Canonical Allele Identifier: CA4537274

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 2933226
• ClinVar RCV Id: RCV003790344
• dbSNP Id: rs770282110
• ExAC: 7:143029514 G / T
• gnomAD v2: 7-143029514-G-T
• gnomAD v4: 7-143332421-G-T
• MyVariant Identifiers: chr7:g.143029514G>T (hg19) ; chr7:g.143332421G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143332421G>T , CM000669.2:g.143332421G>T	GRCh38
NC_000007.13:g.143029514G>T , CM000669.1:g.143029514G>T	GRCh37
NC_000007.12:g.142739636G>T	NCBI36
NG_009815.1:g.21296G>T
NG_009815.2:g.21296G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1169G>T	ENSP00000498052.2:p.Arg390Leu
ENST00000343257.7:c.1169G>T MANE Select	ENSP00000339867.2:p.Arg390Leu
ENST00000432192.6:c.993G>T
ENST00000343257.6:c.1169G>T	ENSP00000339867.2:p.Arg390Leu
NM_000083.2:c.1169G>T	NP_000074.2:p.Arg390Leu
NR_046453.1:n.1259G>T
XM_011515781.1:c.1169G>T	XP_011514083.1:p.Arg390Leu
XM_011515782.1:c.-3-303G>T	XP_011514084.1:n.-3-303G>T
XM_011515782.2:c.-3-303G>T	XP_011514084.1:n.-3-303G>T
XM_017011739.1:c.719G>T	XP_016867228.1:p.Arg240Leu
XM_017011740.1:c.719G>T	XP_016867229.1:p.Arg240Leu
NM_000083.3:c.1169G>T MANE Select	NP_000074.3:p.Arg390Leu
NR_046453.2:n.1274G>T