Canonical Allele Identifier: CA7926287
Gene: ABCC6 HGNC NCBI

Linked Data

ClinVar Variation Id: 433233
ClinVar RCV Id: RCV000499258 RCV002524111 RCV003419849
dbSNP Id: rs72653769
ExAC: 16:16284172 A / T
gnomAD v2: 16-16284172-A-T
gnomAD v4: 16-16190315-A-T
MyVariant Identifiers: chr16:g.16284172A>T (hg19) chr16:g.16190315A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16190315A>T , CM000678.2:g.16190315A>T GRCh38
NC_000016.9:g.16284172A>T , CM000678.1:g.16284172A>T GRCh37
NC_000016.8:g.16191673A>T NCBI36
NG_007558.2:g.38157T>A
NG_007558.3:g.38303T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000622290.5:c.1484T>A ENSP00000483331.2:p.Leu495His
ENST00000205557.12:c.1484T>A MANE Select ENSP00000205557.7:p.Leu495His
ENST00000205557.11:c.1484T>A ENSP00000205557.7:p.Leu495His
ENST00000456970.6:c.1484T>A ENSP00000405002.2:p.Leu495His
ENST00000574094.5:n.1580T>A
ENST00000622290.4:c.1484T>A ENSP00000483331.1:p.Leu495His
NM_001171.5:c.1484T>A NP_001162.4:p.Leu495His
XM_011522479.1:c.1484T>A XP_011520781.1:p.Leu495His
XM_011522480.1:c.1142T>A XP_011520782.1:p.Leu381His
XM_011522481.1:c.1142T>A XP_011520783.1:p.Leu381His
XM_011522482.1:c.1484T>A XP_011520784.1:p.Leu495His
XR_932836.1:n.1719T>A
XR_932837.1:n.1720T>A
XR_932838.1:n.1720T>A
NM_001351800.1:c.1142T>A NP_001338729.1:p.Leu381His
NR_147784.1:n.1521T>A
XM_011522479.2:c.1484T>A XP_011520781.1:p.Leu495His
XM_011522481.3:c.1142T>A XP_011520783.1:p.Leu381His
XM_011522482.3:c.1484T>A XP_011520784.1:p.Leu495His
XM_017023212.1:c.1484T>A XP_016878701.1:p.Leu495His
XM_017023214.1:c.1484T>A XP_016878703.1:p.Leu495His
XM_024450261.1:c.1520T>A XP_024306029.1:p.Leu507His
XR_932836.2:n.1665T>A
XR_932837.3:n.1665T>A
XR_932838.3:n.1665T>A
NM_001171.6:c.1484T>A MANE Select NP_001162.5:p.Leu495His
Search 100 bp 5'
Search 100 bp 3'