Canonical Allele Identifier: CA394885095

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16169846-G-A
• MyVariant Identifiers: chr16:g.16263703G>A (hg19) ; chr16:g.16169846G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16169846G>A , CM000678.2:g.16169846G>A	GRCh38
NC_000016.9:g.16263703G>A , CM000678.1:g.16263703G>A	GRCh37
NC_000016.8:g.16171204G>A	NCBI36
NG_007558.2:g.58626C>T
NG_007558.3:g.58772C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2795C>T	ENSP00000483331.2:p.Ala932Val
ENST00000205557.12:c.2795C>T MANE Select	ENSP00000205557.7:p.Ala932Val
ENST00000205557.11:c.2795C>T	ENSP00000205557.7:p.Ala932Val
ENST00000456970.6:c.2620C>T	ENSP00000405002.2:n.2620C>T
ENST00000622290.4:c.*4C>T	ENSP00000483331.1:n.*4C>T
NM_001171.5:c.2795C>T	NP_001162.4:p.Ala932Val
XM_011522479.1:c.2762C>T	XP_011520781.1:p.Ala921Val
XM_011522480.1:c.2453C>T	XP_011520782.1:p.Ala818Val
XM_011522481.1:c.2453C>T	XP_011520783.1:p.Ala818Val
XR_932836.1:n.3030C>T
XR_932837.1:n.3031C>T
XR_932838.1:n.3031C>T
NM_001351800.1:c.2453C>T	NP_001338729.1:p.Ala818Val
NR_147784.1:n.2657C>T
XM_011522479.2:c.2762C>T	XP_011520781.1:p.Ala921Val
XM_011522481.3:c.2453C>T	XP_011520783.1:p.Ala818Val
XM_017023212.1:c.2627C>T	XP_016878701.1:p.Ala876Val
XM_017023214.1:c.2795C>T	XP_016878703.1:p.Ala932Val
XM_024450261.1:c.2831C>T	XP_024306029.1:p.Ala944Val
XR_932836.2:n.2976C>T
XR_932837.3:n.2976C>T
XR_932838.3:n.2976C>T
NM_001171.6:c.2795C>T MANE Select	NP_001162.5:p.Ala932Val