Canonical Allele Identifier: CA394884501

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 1519671
• ClinVar RCV Id: RCV002024743
• dbSNP Id: rs147391297
• gnomAD v4: 16-16169720-T-A
• MyVariant Identifiers: chr16:g.16263577T>A (hg19) ; chr16:g.16169720T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16169720T>A , CM000678.2:g.16169720T>A	GRCh38
NC_000016.9:g.16263577T>A , CM000678.1:g.16263577T>A	GRCh37
NC_000016.8:g.16171078T>A	NCBI36
NG_007558.2:g.58752A>T
NG_007558.3:g.58898A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2921A>T	ENSP00000483331.2:p.Asp974Val
ENST00000205557.12:c.2921A>T MANE Select	ENSP00000205557.7:p.Asp974Val
ENST00000205557.11:c.2921A>T	ENSP00000205557.7:p.Asp974Val
ENST00000456970.6:c.2746A>T	ENSP00000405002.2:n.2746A>T
ENST00000622290.4:c.*130A>T	ENSP00000483331.1:n.*130A>T
NM_001171.5:c.2921A>T	NP_001162.4:p.Asp974Val
XM_011522479.1:c.2888A>T	XP_011520781.1:p.Asp963Val
XM_011522480.1:c.2579A>T	XP_011520782.1:p.Asp860Val
XM_011522481.1:c.2579A>T	XP_011520783.1:p.Asp860Val
XR_932836.1:n.3156A>T
XR_932837.1:n.3157A>T
XR_932838.1:n.3157A>T
NM_001351800.1:c.2579A>T	NP_001338729.1:p.Asp860Val
NR_147784.1:n.2783A>T
XM_011522479.2:c.2888A>T	XP_011520781.1:p.Asp963Val
XM_011522481.3:c.2579A>T	XP_011520783.1:p.Asp860Val
XM_017023212.1:c.2753A>T	XP_016878701.1:p.Asp918Val
XM_017023214.1:c.2921A>T	XP_016878703.1:p.Asp974Val
XM_024450261.1:c.2957A>T	XP_024306029.1:p.Asp986Val
XR_932836.2:n.3102A>T
XR_932837.3:n.3102A>T
XR_932838.3:n.3102A>T
NM_001171.6:c.2921A>T MANE Select	NP_001162.5:p.Asp974Val