Canonical Allele Identifier: CA394884723

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16154752-G-C
• MyVariant Identifiers: chr16:g.16248609G>C (hg19) ; chr16:g.16154752G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154752G>C , CM000678.2:g.16154752G>C	GRCh38
NC_000016.9:g.16248609G>C , CM000678.1:g.16248609G>C	GRCh37
NC_000016.8:g.16156110G>C	NCBI36
NG_007558.2:g.73720C>G
NG_007558.3:g.73866C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.947C>G
ENST00000622290.5:c.*256C>G	ENSP00000483331.2:n.*256C>G
ENST00000205557.12:c.4084C>G MANE Select	ENSP00000205557.7:p.Leu1362Val
ENST00000640696.1:c.898C>G	ENSP00000492197.1:p.Leu300Val
ENST00000205557.11:c.4084C>G	ENSP00000205557.7:p.Leu1362Val
ENST00000456970.6:c.3709C>G	ENSP00000405002.2:n.3709C>G
ENST00000576204.5:n.947C>G
ENST00000622290.4:c.*1293C>G	ENSP00000483331.1:n.*1293C>G
NM_001171.5:c.4084C>G	NP_001162.4:p.Leu1362Val
XM_011522479.1:c.4051C>G	XP_011520781.1:p.Leu1351Val
XM_011522480.1:c.3742C>G	XP_011520782.1:p.Leu1248Val
XM_011522481.1:c.3742C>G	XP_011520783.1:p.Leu1248Val
XR_933134.1:n.539-5029G>C
NM_001351800.1:c.3742C>G	NP_001338729.1:p.Leu1248Val
NR_147784.1:n.3746C>G
XM_011522479.2:c.4051C>G	XP_011520781.1:p.Leu1351Val
XM_011522481.3:c.3742C>G	XP_011520783.1:p.Leu1248Val
XM_017023212.1:c.3916C>G	XP_016878701.1:p.Leu1306Val
XM_024450261.1:c.4120C>G	XP_024306029.1:p.Leu1374Val
NM_001171.6:c.4084C>G MANE Select	NP_001162.5:p.Leu1362Val