Canonical Allele Identifier: CA7925760

Gene: ABCC6

Linked Data

• dbSNP Id: rs754493974
• ExAC: 16:16263618 G / A
• gnomAD v2: 16-16263618-G-A
• gnomAD v3: 16-16169761-G-A
• gnomAD v4: 16-16169761-G-A
• MyVariant Identifiers: chr16:g.16263618G>A (hg19) ; chr16:g.16169761G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16169761G>A , CM000678.2:g.16169761G>A	GRCh38
NC_000016.9:g.16263618G>A , CM000678.1:g.16263618G>A	GRCh37
NC_000016.8:g.16171119G>A	NCBI36
NG_007558.2:g.58711C>T
NG_007558.3:g.58857C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2880C>T	ENSP00000483331.2:p.Ala960=
ENST00000205557.12:c.2880C>T MANE Select	ENSP00000205557.7:p.Ala960=
ENST00000205557.11:c.2880C>T	ENSP00000205557.7:p.Ala960=
ENST00000456970.6:c.2705C>T	ENSP00000405002.2:n.2705C>T
ENST00000622290.4:c.*89C>T	ENSP00000483331.1:n.*89C>T
NM_001171.5:c.2880C>T	NP_001162.4:p.Ala960=
XM_011522479.1:c.2847C>T	XP_011520781.1:p.Ala949=
XM_011522480.1:c.2538C>T	XP_011520782.1:p.Ala846=
XM_011522481.1:c.2538C>T	XP_011520783.1:p.Ala846=
XR_932836.1:n.3115C>T
XR_932837.1:n.3116C>T
XR_932838.1:n.3116C>T
NM_001351800.1:c.2538C>T	NP_001338729.1:p.Ala846=
NR_147784.1:n.2742C>T
XM_011522479.2:c.2847C>T	XP_011520781.1:p.Ala949=
XM_011522481.3:c.2538C>T	XP_011520783.1:p.Ala846=
XM_017023212.1:c.2712C>T	XP_016878701.1:p.Ala904=
XM_017023214.1:c.2880C>T	XP_016878703.1:p.Ala960=
XM_024450261.1:c.2916C>T	XP_024306029.1:p.Ala972=
XR_932836.2:n.3061C>T
XR_932837.3:n.3061C>T
XR_932838.3:n.3061C>T
NM_001171.6:c.2880C>T MANE Select	NP_001162.5:p.Ala960=