Canonical Allele Identifier: CA4537338

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 359110
• ClinVar RCV Id: RCV000331292 ; RCV001057136
• dbSNP Id: rs776848644
• ExAC: 7:143029961 A / C
• gnomAD v2: 7-143029961-A-C
• gnomAD v3: 7-143332868-A-C
• gnomAD v4: 7-143332868-A-C
• MyVariant Identifiers: chr7:g.143029961A>C (hg19) ; chr7:g.143332868A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143332868A>C , CM000669.2:g.143332868A>C	GRCh38
NC_000007.13:g.143029961A>C , CM000669.1:g.143029961A>C	GRCh37
NC_000007.12:g.142740083A>C	NCBI36
NG_009815.1:g.21743A>C
NG_009815.2:g.21743A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.1396A>C	ENSP00000498052.2:p.Met466Leu
ENST00000343257.7:c.1396A>C MANE Select	ENSP00000339867.2:p.Met466Leu
ENST00000432192.6:c.1220A>C
ENST00000343257.6:c.1396A>C	ENSP00000339867.2:p.Met466Leu
NM_000083.2:c.1396A>C	NP_000074.2:p.Met466Leu
NR_046453.1:n.1341+365A>C
XM_011515781.1:c.1420A>C	XP_011514083.1:p.Met474Leu
XM_011515782.1:c.142A>C	XP_011514084.1:p.Met48Leu
XM_011515782.2:c.142A>C	XP_011514084.1:p.Met48Leu
XM_017011739.1:c.970A>C	XP_016867228.1:p.Met324Leu
XM_017011740.1:c.946A>C	XP_016867229.1:p.Met316Leu
NM_000083.3:c.1396A>C MANE Select	NP_000074.3:p.Met466Leu
NR_046453.2:n.1356+365A>C