Canonical Allele Identifier: CA394884647

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 1417625
• ClinVar RCV Id: RCV001938513
• dbSNP Id: rs2152235602
• gnomAD v4: 16-16169742-A-G
• MyVariant Identifiers: chr16:g.16263599A>G (hg19) ; chr16:g.16169742A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16169742A>G , CM000678.2:g.16169742A>G	GRCh38
NC_000016.9:g.16263599A>G , CM000678.1:g.16263599A>G	GRCh37
NC_000016.8:g.16171100A>G	NCBI36
NG_007558.2:g.58730T>C
NG_007558.3:g.58876T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2899T>C	ENSP00000483331.2:p.Trp967Arg
ENST00000205557.12:c.2899T>C MANE Select	ENSP00000205557.7:p.Trp967Arg
ENST00000205557.11:c.2899T>C	ENSP00000205557.7:p.Trp967Arg
ENST00000456970.6:c.2724T>C	ENSP00000405002.2:n.2724T>C
ENST00000622290.4:c.*108T>C	ENSP00000483331.1:n.*108T>C
NM_001171.5:c.2899T>C	NP_001162.4:p.Trp967Arg
XM_011522479.1:c.2866T>C	XP_011520781.1:p.Trp956Arg
XM_011522480.1:c.2557T>C	XP_011520782.1:p.Trp853Arg
XM_011522481.1:c.2557T>C	XP_011520783.1:p.Trp853Arg
XR_932836.1:n.3134T>C
XR_932837.1:n.3135T>C
XR_932838.1:n.3135T>C
NM_001351800.1:c.2557T>C	NP_001338729.1:p.Trp853Arg
NR_147784.1:n.2761T>C
XM_011522479.2:c.2866T>C	XP_011520781.1:p.Trp956Arg
XM_011522481.3:c.2557T>C	XP_011520783.1:p.Trp853Arg
XM_017023212.1:c.2731T>C	XP_016878701.1:p.Trp911Arg
XM_017023214.1:c.2899T>C	XP_016878703.1:p.Trp967Arg
XM_024450261.1:c.2935T>C	XP_024306029.1:p.Trp979Arg
XR_932836.2:n.3080T>C
XR_932837.3:n.3080T>C
XR_932838.3:n.3080T>C
NM_001171.6:c.2899T>C MANE Select	NP_001162.5:p.Trp967Arg