Canonical Allele Identifier: CA369645313

Gene: CLCN1

Linked Data

• dbSNP Id: rs1424967747
• gnomAD v2: 7-143036374-T-A
• gnomAD v4: 7-143339281-T-A
• MyVariant Identifiers: chr7:g.143036374T>A (hg19) ; chr7:g.143339281T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143339281T>A , CM000669.2:g.143339281T>A	GRCh38
NC_000007.13:g.143036374T>A , CM000669.1:g.143036374T>A	GRCh37
NC_000007.12:g.142746496T>A	NCBI36
NG_009815.1:g.28156T>A
NG_009815.2:g.28156T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1430T>A	ENSP00000498052.2:p.Met477Lys
ENST00000343257.7:c.1430T>A MANE Select	ENSP00000339867.2:p.Met477Lys
ENST00000432192.6:c.1254T>A
ENST00000343257.6:c.1430T>A	ENSP00000339867.2:p.Met477Lys
NM_000083.2:c.1430T>A	NP_000074.2:p.Met477Lys
NR_046453.1:n.1370T>A
XM_011515781.1:c.1454T>A	XP_011514083.1:p.Met485Lys
XM_011515782.1:c.176T>A	XP_011514084.1:p.Met59Lys
XM_011515782.2:c.176T>A	XP_011514084.1:p.Met59Lys
XM_017011739.1:c.1004T>A	XP_016867228.1:p.Met335Lys
XM_017011740.1:c.980T>A	XP_016867229.1:p.Met327Lys
NM_000083.3:c.1430T>A MANE Select	NP_000074.3:p.Met477Lys
NR_046453.2:n.1385T>A