Canonical Allele Identifier: CA4537269

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 462828
• ClinVar RCV Id: RCV000987989 ; RCV000540290 ; RCV000711215 ; RCV003992320
• dbSNP Id: rs543120965
• ExAC: 7:143029502 T / C
• gnomAD v2: 7-143029502-T-C
• gnomAD v3: 7-143332409-T-C
• gnomAD v4: 7-143332409-T-C
• MyVariant Identifiers: chr7:g.143029502T>C (hg19) ; chr7:g.143332409T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143332409T>C , CM000669.2:g.143332409T>C	GRCh38
NC_000007.13:g.143029502T>C , CM000669.1:g.143029502T>C	GRCh37
NC_000007.12:g.142739624T>C	NCBI36
NG_009815.1:g.21284T>C
NG_009815.2:g.21284T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1167-10T>C	ENSP00000498052.2:n.1167-10T>C
ENST00000343257.7:c.1167-10T>C MANE Select	ENSP00000339867.2:n.1167-10T>C
ENST00000432192.6:c.991-10T>C
ENST00000343257.6:c.1167-10T>C	ENSP00000339867.2:n.1167-10T>C
NM_000083.2:c.1167-10T>C	NP_000074.2:n.1167-10T>C
NR_046453.1:n.1257-10T>C
XM_011515781.1:c.1167-10T>C	XP_011514083.1:n.1167-10T>C
XM_011515782.1:c.-3-315T>C	XP_011514084.1:n.-3-315T>C
XM_011515782.2:c.-3-315T>C	XP_011514084.1:n.-3-315T>C
XM_017011739.1:c.717-10T>C	XP_016867228.1:n.717-10T>C
XM_017011740.1:c.717-10T>C	XP_016867229.1:n.717-10T>C
NM_000083.3:c.1167-10T>C MANE Select	NP_000074.3:n.1167-10T>C
NR_046453.2:n.1272-10T>C