Canonical Allele Identifier: CA394881385

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 1393203
• ClinVar RCV Id: RCV001912512
• dbSNP Id: rs1184430665
• gnomAD v3: 16-16163079-G-T
• gnomAD v4: 16-16163079-G-T
• MyVariant Identifiers: chr16:g.16256936G>T (hg19) ; chr16:g.16163079G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16163079G>T , CM000678.2:g.16163079G>T	GRCh38
NC_000016.9:g.16256936G>T , CM000678.1:g.16256936G>T	GRCh37
NC_000016.8:g.16164437G>T	NCBI36
NG_007558.2:g.65393C>A
NG_007558.3:g.65539C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3420C>A	ENSP00000483331.2:p.Phe1140Leu
ENST00000205557.12:c.3420C>A MANE Select	ENSP00000205557.7:p.Phe1140Leu
ENST00000640696.1:c.321-1515C>A	ENSP00000492197.1:n.321-1515C>A
ENST00000205557.11:c.3420C>A	ENSP00000205557.7:p.Phe1140Leu
ENST00000456970.6:c.3132-1515C>A	ENSP00000405002.2:n.3132-1515C>A
ENST00000622290.4:c.*629C>A	ENSP00000483331.1:n.*629C>A
NM_001171.5:c.3420C>A	NP_001162.4:p.Phe1140Leu
XM_011522479.1:c.3387C>A	XP_011520781.1:p.Phe1129Leu
XM_011522480.1:c.3078C>A	XP_011520782.1:p.Phe1026Leu
XM_011522481.1:c.3078C>A	XP_011520783.1:p.Phe1026Leu
XR_932836.1:n.3655C>A
XR_932837.1:n.3543-1515C>A
XR_932838.1:n.3543-1515C>A
XR_933133.1:n.407+236G>T
XR_933134.1:n.754+236G>T
NM_001351800.1:c.3078C>A	NP_001338729.1:p.Phe1026Leu
NR_147784.1:n.3169-1515C>A
XM_011522479.2:c.3387C>A	XP_011520781.1:p.Phe1129Leu
XM_011522481.3:c.3078C>A	XP_011520783.1:p.Phe1026Leu
XM_017023212.1:c.3252C>A	XP_016878701.1:p.Phe1084Leu
XM_017023214.1:c.3307-1515C>A	XP_016878703.1:n.3307-1515C>A
XM_024450261.1:c.3456C>A	XP_024306029.1:p.Phe1152Leu
XR_932836.2:n.3601C>A
XR_932837.3:n.3488-1515C>A
XR_932838.3:n.3488-1515C>A
NM_001171.6:c.3420C>A MANE Select	NP_001162.5:p.Phe1140Leu