Canonical Allele Identifier: CA394884233

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16169646-C-G
• MyVariant Identifiers: chr16:g.16263503C>G (hg19) ; chr16:g.16169646C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16169646C>G , CM000678.2:g.16169646C>G	GRCh38
NC_000016.9:g.16263503C>G , CM000678.1:g.16263503C>G	GRCh37
NC_000016.8:g.16171004C>G	NCBI36
NG_007558.2:g.58826G>C
NG_007558.3:g.58972G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2995G>C	ENSP00000483331.2:p.Ala999Pro
ENST00000205557.12:c.2995G>C MANE Select	ENSP00000205557.7:p.Ala999Pro
ENST00000205557.11:c.2995G>C	ENSP00000205557.7:p.Ala999Pro
ENST00000456970.6:c.2820G>C	ENSP00000405002.2:n.2820G>C
ENST00000622290.4:c.*204G>C	ENSP00000483331.1:n.*204G>C
NM_001171.5:c.2995G>C	NP_001162.4:p.Ala999Pro
XM_011522479.1:c.2962G>C	XP_011520781.1:p.Ala988Pro
XM_011522480.1:c.2653G>C	XP_011520782.1:p.Ala885Pro
XM_011522481.1:c.2653G>C	XP_011520783.1:p.Ala885Pro
XR_932836.1:n.3230G>C
XR_932837.1:n.3231G>C
XR_932838.1:n.3231G>C
NM_001351800.1:c.2653G>C	NP_001338729.1:p.Ala885Pro
NR_147784.1:n.2857G>C
XM_011522479.2:c.2962G>C	XP_011520781.1:p.Ala988Pro
XM_011522481.3:c.2653G>C	XP_011520783.1:p.Ala885Pro
XM_017023212.1:c.2827G>C	XP_016878701.1:p.Ala943Pro
XM_017023214.1:c.2995G>C	XP_016878703.1:p.Ala999Pro
XM_024450261.1:c.3031G>C	XP_024306029.1:p.Ala1011Pro
XR_932836.2:n.3176G>C
XR_932837.3:n.3176G>C
XR_932838.3:n.3176G>C
NM_001171.6:c.2995G>C MANE Select	NP_001162.5:p.Ala999Pro