Canonical Allele Identifier: CA278675285

Gene: ABCC6

Linked Data

• dbSNP Id: rs369157557
• gnomAD v3: 16-16150616-G-A
• gnomAD v4: 16-16150616-G-A
• MyVariant Identifiers: chr16:g.16244473G>A (hg19) ; chr16:g.16150616G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150616G>A , CM000678.2:g.16150616G>A	GRCh38
NC_000016.9:g.16244473G>A , CM000678.1:g.16244473G>A	GRCh37
NC_000016.8:g.16151974G>A	NCBI36
NG_007558.2:g.77856C>T
NG_007558.3:g.78002C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000622290.5:c.*537C>T	ENSP00000483331.2:n.*537C>T
ENST00000205557.12:c.4365C>T MANE Select	ENSP00000205557.7:p.Leu1455=
ENST00000640696.1:c.1179C>T	ENSP00000492197.1:p.Leu393=
ENST00000205557.11:c.4365C>T	ENSP00000205557.7:p.Leu1455=
ENST00000456970.6:c.3990C>T	ENSP00000405002.2:n.3990C>T
ENST00000576204.5:n.1228C>T
ENST00000622290.4:c.*1574C>T	ENSP00000483331.1:n.*1574C>T
NM_001171.5:c.4365C>T	NP_001162.4:p.Leu1455=
XM_011522479.1:c.4332C>T	XP_011520781.1:p.Leu1444=
XM_011522480.1:c.4023C>T	XP_011520782.1:p.Leu1341=
XM_011522481.1:c.4023C>T	XP_011520783.1:p.Leu1341=
XR_933134.1:n.538+6326G>A
NM_001351800.1:c.4023C>T	NP_001338729.1:p.Leu1341=
NR_147784.1:n.4027C>T
XM_011522479.2:c.4332C>T	XP_011520781.1:p.Leu1444=
XM_011522481.3:c.4023C>T	XP_011520783.1:p.Leu1341=
XM_017023212.1:c.4197C>T	XP_016878701.1:p.Leu1399=
XM_024450261.1:c.4401C>T	XP_024306029.1:p.Leu1467=
NM_001171.6:c.4365C>T MANE Select	NP_001162.5:p.Leu1455=