Canonical Allele Identifier: CA394884115

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 433453
• ClinVar RCV Id: RCV000499019 ; RCV003558411
• dbSNP Id: rs1555506740
• gnomAD v4: 16-16150774-T-G
• MyVariant Identifiers: chr16:g.16244631T>G (hg19) ; chr16:g.16150774T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150774T>G , CM000678.2:g.16150774T>G	GRCh38
NC_000016.9:g.16244631T>G , CM000678.1:g.16244631T>G	GRCh37
NC_000016.8:g.16152132T>G	NCBI36
NG_007558.2:g.77698A>C
NG_007558.3:g.77844A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*381-2A>C	ENSP00000483331.2:n.*381-2A>C
ENST00000205557.12:c.4209-2A>C MANE Select	ENSP00000205557.7:n.4209-2A>C
ENST00000640696.1:c.1023-2A>C	ENSP00000492197.1:n.1023-2A>C
ENST00000205557.11:c.4209-2A>C	ENSP00000205557.7:n.4209-2A>C
ENST00000456970.6:c.3834-2A>C	ENSP00000405002.2:n.3834-2A>C
ENST00000576204.5:n.1072-2A>C
ENST00000622290.4:c.*1418-2A>C	ENSP00000483331.1:n.*1418-2A>C
NM_001171.5:c.4209-2A>C	NP_001162.4:n.4209-2A>C
XM_011522479.1:c.4176-2A>C	XP_011520781.1:n.4176-2A>C
XM_011522480.1:c.3867-2A>C	XP_011520782.1:n.3867-2A>C
XM_011522481.1:c.3867-2A>C	XP_011520783.1:n.3867-2A>C
XR_933134.1:n.538+6484T>G
NM_001351800.1:c.3867-2A>C	NP_001338729.1:n.3867-2A>C
NR_147784.1:n.3871-2A>C
XM_011522479.2:c.4176-2A>C	XP_011520781.1:n.4176-2A>C
XM_011522481.3:c.3867-2A>C	XP_011520783.1:n.3867-2A>C
XM_017023212.1:c.4041-2A>C	XP_016878701.1:n.4041-2A>C
XM_024450261.1:c.4245-2A>C	XP_024306029.1:n.4245-2A>C
NM_001171.6:c.4209-2A>C MANE Select	NP_001162.5:n.4209-2A>C