Canonical Allele Identifier: CA168256303

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 1360824
• ClinVar RCV Id: RCV001907209
• dbSNP Id: rs963470037
• gnomAD v2: 7-143018861-T-C
• gnomAD v3: 7-143321768-T-C
• gnomAD v4: 7-143321768-T-C
• MyVariant Identifiers: chr7:g.143018861T>C (hg19) ; chr7:g.143321768T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321768T>C , CM000669.2:g.143321768T>C	GRCh38
NC_000007.13:g.143018861T>C , CM000669.1:g.143018861T>C	GRCh37
NC_000007.12:g.142728983T>C	NCBI36
NG_009815.1:g.10643T>C
NG_009815.2:g.10643T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.616T>C	ENSP00000498052.2:p.Tyr206His
ENST00000343257.7:c.616T>C MANE Select	ENSP00000339867.2:p.Tyr206His
ENST00000432192.6:c.384T>C
ENST00000455478.6:c.70T>C	ENSP00000400027.2:p.Tyr24His
ENST00000650516.1:c.616T>C	ENSP00000498052.1:p.Tyr206His
ENST00000343257.6:c.616T>C	ENSP00000339867.2:p.Tyr206His
ENST00000432192.5:c.74T>C
ENST00000455478.5:c.74T>C
ENST00000495612.1:n.74T>C
NM_000083.2:c.616T>C	NP_000074.2:p.Tyr206His
NR_046453.1:n.703T>C
XM_011515781.1:c.616T>C	XP_011514083.1:p.Tyr206His
XM_017011739.1:c.323T>C	XP_016867228.1:p.Ile108Thr
XM_017011740.1:c.323T>C	XP_016867229.1:p.Ile108Thr
NM_000083.3:c.616T>C MANE Select	NP_000074.3:p.Tyr206His
NR_046453.2:n.718T>C