Canonical Allele Identifier: CA394883522

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16150177-T-G
• MyVariant Identifiers: chr16:g.16244034T>G (hg19) ; chr16:g.16150177T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150177T>G , CM000678.2:g.16150177T>G	GRCh38
NC_000016.9:g.16244034T>G , CM000678.1:g.16244034T>G	GRCh37
NC_000016.8:g.16151535T>G	NCBI36
NG_007558.2:g.78295A>C
NG_007558.3:g.78441A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*640A>C	ENSP00000483331.2:n.*640A>C
ENST00000205557.12:c.4468A>C MANE Select	ENSP00000205557.7:p.Lys1490Gln
ENST00000640696.1:c.1282A>C	ENSP00000492197.1:p.Lys428Gln
ENST00000205557.11:c.4468A>C	ENSP00000205557.7:p.Lys1490Gln
ENST00000456970.6:c.4093A>C	ENSP00000405002.2:n.4093A>C
ENST00000576204.5:n.1331A>C
ENST00000622290.4:c.*1677A>C	ENSP00000483331.1:n.*1677A>C
NM_001171.5:c.4468A>C	NP_001162.4:p.Lys1490Gln
XM_011522479.1:c.4435A>C	XP_011520781.1:p.Lys1479Gln
XM_011522480.1:c.4126A>C	XP_011520782.1:p.Lys1376Gln
XM_011522481.1:c.4126A>C	XP_011520783.1:p.Lys1376Gln
XR_933134.1:n.538+5887T>G
NM_001351800.1:c.4126A>C	NP_001338729.1:p.Lys1376Gln
NR_147784.1:n.4130A>C
XM_011522479.2:c.4435A>C	XP_011520781.1:p.Lys1479Gln
XM_011522481.3:c.4126A>C	XP_011520783.1:p.Lys1376Gln
XM_017023212.1:c.4300A>C	XP_016878701.1:p.Lys1434Gln
XM_024450261.1:c.4504A>C	XP_024306029.1:p.Lys1502Gln
NM_001171.6:c.4468A>C MANE Select	NP_001162.5:p.Lys1490Gln